{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA6536960", "communityStandardTitle": [ "NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1062646[alleleid]", "alleleId": 1062646, "preferredName": "NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1072346", "RCV": [ "RCV001385034" ], "variationId": 1072346 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/12-48526711-C-T", "id": "12-48526711-C-T", "variant": "12:48526711 C / T" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48526711C>T?assembly=hg19", "id": "chr12:g.48526711C>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48132928C>T?assembly=hg38", "id": "chr12:g.48132928C>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/374547385", "rs": 374547385 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48526711-C-T?dataset=gnomad_r2_1", "id": "12-48526711-C-T", "variant": "12:48526711 C / T" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48132928-C-T?dataset=gnomad_r3", "id": "12-48132928-C-T", "variant": "12:48132928 C / T" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/12-48132928-C-T?dataset=gnomad_r4", "id": "12-48132928-C-T", "variant": "12:48132928 C / T" } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48132928, "referenceAllele": "C", "start": 48132927 } ], "hgvs": [ "NC_000012.12:g.48132928C>T", "CM000674.2:g.48132928C>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48526711, "referenceAllele": "C", "start": 48526710 } ], "hgvs": [ "NC_000012.11:g.48526711C>T", "CM000674.1:g.48526711C>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 46812978, "referenceAllele": "C", "start": 46812977 } ], "hgvs": [ "NC_000012.10:g.46812978C>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 32056, "referenceAllele": "C", "start": 32055 } ], "hgvs": [ "NG_016199.1:g.32056C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "T", "end": 32676, "referenceAllele": "C", "start": 32675 } ], "hgvs": [ "NG_016199.2:g.32676C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.520C>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Arg174Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Arg174_Val854delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.511C>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg171Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg100Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.298C>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.298C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg100Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg100Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Arg100Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Arg100_Val694delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Arg100Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Arg100Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "T", "end": 442, "referenceAllele": "C", "start": 441 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Arg100Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "T", "end": 751, "referenceAllele": "C", "start": 750 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.607C>T" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Arg203Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Arg100Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.511C>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Arg171Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "T", "end": 487, "referenceAllele": "C", "start": 486 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Arg100Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "T", "end": 140, "endIntronDirection": "-", "endIntronOffset": 7842, "referenceAllele": "C", "start": 140, "startIntronDirection": "-", "startIntronOffset": 7843 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546465.1:c.86-7843C>T" ], "proteinEffect": { "hgvs": "ENSP00000446519.1:n.86-7843C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS365658" }, { "coordinates": [ { "allele": "T", "end": 370, "referenceAllele": "C", "start": 369 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.370C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "T", "end": 886, "referenceAllele": "C", "start": 885 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*314C>T" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*314C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Arg100Ter", "hgvsWellDefined": "ENSP00000449426.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" 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"http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549022.5:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000446805.1:p.Arg100Ter", "hgvsWellDefined": "ENSP00000446805.1:p.Arg100_Leu161del" }, "referenceSequence": "http://reg.genome.network/refseq/RS367208" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.5:c.397C>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.1:p.Arg133Ter", "hgvsWellDefined": "ENSP00000446829.1:p.Arg133_Gly153del" }, "referenceSequence": "http://reg.genome.network/refseq/RS367750" }, { "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.5:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.1:p.Arg100Ter", "hgvsWellDefined": "ENSP00000450369.1:p.Arg100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS367988" }, { "coordinates": [ { "allele": "T", "end": 405, "referenceAllele": "C", "start": 404 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.5:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.1:p.Arg100Ter", "hgvsWellDefined": "ENSP00000448253.1:p.Arg100Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS368609" }, { "coordinates": [ { "allele": "T", "end": 554, "referenceAllele": "C", "start": 553 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551485.5:c.*182C>T" ], "proteinEffect": { "hgvs": "ENSP00000448315.1:n.*182C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS368689" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.298C>T" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Arg100Ter", "hgvsWellDefined": "ENSP00000448177.1:p.Arg100_Val749delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "T", "end": 149, "endIntronDirection": "-", "endIntronOffset": 1310, "referenceAllele": "C", "start": 149, "startIntronDirection": "-", "startIntronOffset": 1311 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552989.5:c.86-1311C>T" ], "proteinEffect": { "hgvs": "ENSP00000447774.1:n.86-1311C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS369569" }, { "@id": "http://reg.genome.network/allele/PA2825141627", "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.298C>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg100Ter", "hgvsWellDefined": "NP_000280.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826034032", "coordinates": [ { "allele": "T", "end": 785, "referenceAllele": "C", "start": 784 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg171Ter", "hgvsWellDefined": "NP_001160158.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034483", "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg100Ter", "hgvsWellDefined": "NP_001160159.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826034941", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg100Ter", "hgvsWellDefined": "NP_001160160.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "T", "end": 682, "referenceAllele": "C", "start": 681 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.607C>T" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Arg203Ter", "hgvsWellDefined": "XP_005269031.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "T", "end": 821, "referenceAllele": "C", "start": 820 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.607C>T" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Arg203Ter", "hgvsWellDefined": "XP_005269032.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "T", "end": 726, "referenceAllele": "C", "start": 725 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.607C>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg203Ter", "hgvsWellDefined": "XP_005269033.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Arg171Ter", "hgvsWellDefined": "XP_005269034.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.511C>T" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Arg171Ter", "hgvsWellDefined": "XP_005269035.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Arg171Ter", "hgvsWellDefined": "XP_005269036.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "T", "end": 616, "referenceAllele": "C", "start": 615 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.607C>T" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Arg203Ter", "hgvsWellDefined": "XP_011536789.1:p.Arg203_Val852delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "T", "end": 324, "referenceAllele": "C", "start": 323 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.298C>T" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Arg100Ter", "hgvsWellDefined": "XP_011536790.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141627", "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.298C>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Arg100Ter", "hgvsWellDefined": "NP_000280.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.298C>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.298C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Arg100Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Arg100Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826034032", "coordinates": [ { "allele": "T", "end": 735, "referenceAllele": "C", "start": 734 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Arg171Ter", "hgvsWellDefined": "NP_001160158.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929144", "coordinates": [ { "allele": "T", "end": 753, "referenceAllele": "C", "start": 752 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.607C>T" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Arg203Ter", "hgvsWellDefined": "NP_001341664.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2827929607", "coordinates": [ { "allele": "T", "end": 812, "referenceAllele": "C", "start": 811 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.607C>T" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Arg203Ter", "hgvsWellDefined": "NP_001341665.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827929932", "coordinates": [ { "allele": "T", "end": 716, "referenceAllele": "C", "start": 715 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Arg171Ter", "hgvsWellDefined": "NP_001341666.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930396", "coordinates": [ { "allele": "T", "end": 586, "referenceAllele": "C", "start": 585 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Arg171Ter", "hgvsWellDefined": "NP_001341667.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827930847", "coordinates": [ { "allele": "T", "end": 657, "referenceAllele": "C", "start": 656 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.511C>T" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Arg171Ter", "hgvsWellDefined": "NP_001341668.1:p.Arg171_Val851delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2827931297", "coordinates": [ { "allele": "T", "end": 539, "referenceAllele": "C", "start": 538 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.442C>T" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Arg148Ter", "hgvsWellDefined": "NP_001341669.1:p.Arg148_Val828delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931748", "coordinates": [ { "allele": "T", "end": 569, "referenceAllele": "C", "start": 568 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg108Ter", "hgvsWellDefined": "NP_001341670.1:p.Arg108_Val788delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932204", "coordinates": [ { "allele": "T", "end": 473, "referenceAllele": "C", "start": 472 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341671.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932662", "coordinates": [ { "allele": "T", "end": 496, "referenceAllele": "C", "start": 495 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341672.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933119", "coordinates": [ { "allele": "T", "end": 531, "referenceAllele": "C", "start": 530 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341673.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2499252069", "coordinates": [ { "allele": "T", "end": 721, "referenceAllele": "C", "start": 720 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg71Ter", "hgvsWellDefined": "NP_001341674.1:p.Arg71_Val751delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827934010", "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341675.1:p.Arg100_Val738delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "@id": "http://reg.genome.network/allele/PA2827934400", "coordinates": [ { "allele": "T", "end": 399, "referenceAllele": "C", "start": 398 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Arg50Ter", "hgvsWellDefined": "NP_001341676.1:p.Arg50_Val730delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "@id": "http://reg.genome.network/allele/PA2827934823", "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Arg50Ter", "hgvsWellDefined": "NP_001341677.1:p.Arg50_Val730delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100442", "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg100Ter", "hgvsWellDefined": "NP_001350548.1:p.Arg100_Val749delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "T", "end": 1119, "referenceAllele": "C", "start": 1118 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.1119C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "T", "end": 483, "referenceAllele": "C", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.483C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "T", "end": 409, "referenceAllele": "C", "start": 408 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.409C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "T", "end": 864, "referenceAllele": "C", "start": 863 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.607C>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Arg203Ter", "hgvsWellDefined": "XP_005269033.1:p.Arg203_Val883delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "T", "end": 668, "referenceAllele": "C", "start": 667 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.511C>T" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Arg171Ter", "hgvsWellDefined": "XP_016874958.1:p.Arg171_Val820delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "T", "end": 644, "referenceAllele": "C", "start": 643 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.520C>T" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Arg174Ter", "hgvsWellDefined": "XP_024304788.1:p.Arg174_Val854delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "T", "end": 533, "referenceAllele": "C", "start": 532 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.397C>T" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Arg133Ter", "hgvsWellDefined": "XP_024304789.1:p.Arg133_Val813delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "T", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.298C>T" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Arg100Ter", "hgvsWellDefined": "XP_024304790.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034483", "coordinates": [ { "allele": "T", "end": 337, "referenceAllele": "C", "start": 336 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Arg100Ter", "hgvsWellDefined": "NP_001160159.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826034941", "coordinates": [ { "allele": "T", "end": 426, "referenceAllele": "C", "start": 425 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Arg100Ter", "hgvsWellDefined": "NP_001160160.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931748", "coordinates": [ { "allele": "T", "end": 469, "referenceAllele": "C", "start": 468 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.322C>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Arg108Ter", "hgvsWellDefined": "NP_001341670.1:p.Arg108_Val788delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932204", "coordinates": [ { "allele": "T", "end": 373, "referenceAllele": "C", "start": 372 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341671.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932662", "coordinates": [ { "allele": "T", "end": 636, "referenceAllele": "C", "start": 635 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341672.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933119", "coordinates": [ { "allele": "T", "end": 397, "referenceAllele": "C", "start": 396 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341673.1:p.Arg100_Val780delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2499252069", "coordinates": [ { "allele": "T", "end": 587, "referenceAllele": "C", "start": 586 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.211C>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Arg71Ter", "hgvsWellDefined": "NP_001341674.1:p.Arg71_Val751delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827934010", "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Arg100Ter", "hgvsWellDefined": "NP_001341675.1:p.Arg100_Val738delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "@id": "http://reg.genome.network/allele/PA2827934400", "coordinates": [ { "allele": "T", "end": 299, "referenceAllele": "C", "start": 298 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Arg50Ter", "hgvsWellDefined": "NP_001341676.1:p.Arg50_Val730delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "@id": "http://reg.genome.network/allele/PA2827934823", "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.148C>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Arg50Ter", "hgvsWellDefined": "NP_001341677.1:p.Arg50_Val730delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100442", "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.298C>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Arg100Ter", "hgvsWellDefined": "NP_001350548.1:p.Arg100_Val749delinsAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.349C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.275C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.349C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "T", "end": 349, "referenceAllele": "C", "start": 348 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.349C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "T", "end": 275, "referenceAllele": "C", "start": 274 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.275C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }