{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384539186", "communityStandardTitle": [ "NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1062645[alleleid]", "alleleId": 1062645, "preferredName": "NM_000289.6(PFKM):c.165T>A (p.Tyr55Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1074467", "RCV": [ "RCV001387775" ], "variationId": 1074467 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48525104T>A?assembly=hg19", "id": "chr12:g.48525104T>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48131321T>A?assembly=hg38", "id": "chr12:g.48131321T>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2135856711", "rs": 2135856711 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 48131321, "referenceAllele": "T", "start": 48131320 } ], "hgvs": [ "NC_000012.12:g.48131321T>A", "CM000674.2:g.48131321T>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 48525104, "referenceAllele": "T", "start": 48525103 } ], "hgvs": [ "NC_000012.11:g.48525104T>A", "CM000674.1:g.48525104T>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "A", "end": 46811371, "referenceAllele": "T", "start": 46811370 } ], "hgvs": [ "NC_000012.10:g.46811371T>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "A", "end": 30449, "referenceAllele": "T", "start": 30448 } ], "hgvs": [ "NG_016199.1:g.30449T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "A", "end": 31069, "referenceAllele": "T", "start": 31068 } ], "hgvs": [ "NG_016199.2:g.31069T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "T", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.387T>A" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Tyr129Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Tyr129_Val854delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "T", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.378T>A" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.165T>A" }, "RefSeq": { "hgvs": "NM_000289.6:c.165T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Tyr55Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Tyr55Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "T", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Tyr55_Val694delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "T", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.6:c.273T>A" ], "proteinEffect": { "hgvs": "ENSP00000447997.2:p.Tyr91Ter", "hgvsWellDefined": "ENSP00000447997.2:p.Tyr91_Met111del" }, "referenceSequence": "http://reg.genome.network/refseq/RS759954" }, { "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "T", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "A", "end": 309, "referenceAllele": "T", "start": 308 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "A", "end": 618, "referenceAllele": "T", "start": 617 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.474T>A" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Tyr158Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "T", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.378T>A" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "A", "end": 354, "referenceAllele": "T", "start": 353 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Tyr55Ter", "hgvsWellDefined": 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"ENSP00000448315.1:p.Tyr55_Cys102delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuLeuSerSerLeuLysIleHisGlyGlnLysPheAsnMetGlnCysLeuValLysAlaLeuProArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368689" }, { "coordinates": [ { "allele": "A", "end": 228, "referenceAllele": "T", "start": 227 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551548.5:n.228T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS368723" }, { "coordinates": [ { "allele": "A", "end": 316, "referenceAllele": "T", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Tyr55Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "A", "end": 555, "referenceAllele": "T", "start": 554 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552792.5:c.378T>A" ], "proteinEffect": { "hgvs": "ENSP00000448940.1:p.Tyr126Ter", "hgvsWellDefined": "ENSP00000448940.1:p.Tyr126_Leu150del" }, "referenceSequence": "http://reg.genome.network/refseq/RS369448" }, { "coordinates": [ { "allele": "A", "end": 149, "endIntronDirection": "-", "endIntronOffset": 2917, "referenceAllele": "T", "start": 149, "startIntronDirection": "-", "startIntronOffset": 2918 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552989.5:c.86-2918T>A" ], "proteinEffect": { "hgvs": "ENSP00000447774.1:n.86-2918T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS369569" }, { "coordinates": [ { "allele": "A", "end": 237, "referenceAllele": "T", "start": 236 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000629846.2:c.165T>A" ], "proteinEffect": { "hgvs": "ENSP00000486196.1:p.Tyr55Ter", "hgvsWellDefined": "ENSP00000486196.1:p.Tyr55_Cys102delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuLeuSerSerLeuLysIleHisGlyGlnLysPheAsnMetGlnCysLeuValLysAlaLeuProArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS407281" }, { "@id": "http://reg.genome.network/allele/PA2825141603", "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "T", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.165T>A" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Tyr55Ter", "hgvsWellDefined": "NP_000280.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826034007", "coordinates": [ { "allele": "A", "end": 652, "referenceAllele": "T", "start": 651 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.378T>A" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001160158.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034458", "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001160159.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826034915", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001160160.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "A", "end": 549, "referenceAllele": "T", "start": 548 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.474T>A" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Tyr158Ter", "hgvsWellDefined": "XP_005269031.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "A", "end": 688, "referenceAllele": "T", "start": 687 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.474T>A" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Tyr158Ter", "hgvsWellDefined": "XP_005269032.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "A", "end": 593, "referenceAllele": "T", "start": 592 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.474T>A" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Tyr158Ter", "hgvsWellDefined": "XP_005269033.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "T", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.378T>A" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Tyr126Ter", "hgvsWellDefined": "XP_005269034.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "A", "end": 448, "referenceAllele": "T", "start": 447 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.378T>A" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Tyr126Ter", "hgvsWellDefined": "XP_005269035.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "T", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.378T>A" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Tyr126Ter", "hgvsWellDefined": "XP_005269036.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "A", "end": 483, "referenceAllele": "T", "start": 482 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.474T>A" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Tyr158Ter", "hgvsWellDefined": "XP_011536789.1:p.Tyr158_Val852delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "A", "end": 191, "referenceAllele": "T", "start": 190 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.165T>A" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Tyr55Ter", "hgvsWellDefined": "XP_011536790.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141603", "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.165T>A" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Tyr55Ter", "hgvsWellDefined": "NP_000280.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.165T>A" }, "RefSeq": { "hgvs": "NM_000289.6:c.165T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Tyr55Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Tyr55Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826034007", "coordinates": [ { "allele": "A", "end": 602, "referenceAllele": "T", "start": 601 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.378T>A" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001160158.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929118", "coordinates": [ { "allele": "A", "end": 620, "referenceAllele": "T", "start": 619 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.474T>A" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Tyr158Ter", "hgvsWellDefined": "NP_001341664.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2827929582", "coordinates": [ { "allele": "A", "end": 679, "referenceAllele": "T", "start": 678 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.474T>A" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Tyr158Ter", "hgvsWellDefined": "NP_001341665.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827929907", "coordinates": [ { "allele": "A", "end": 583, "referenceAllele": "T", "start": 582 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.378T>A" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341666.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930370", "coordinates": [ { "allele": "A", "end": 453, "referenceAllele": "T", "start": 452 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.378T>A" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341667.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827930822", "coordinates": [ { "allele": "A", "end": 524, "referenceAllele": "T", "start": 523 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.378T>A" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Tyr126Ter", "hgvsWellDefined": "NP_001341668.1:p.Tyr126_Val851delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2827931272", "coordinates": [ { "allele": "A", "end": 406, "referenceAllele": "T", "start": 405 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.309T>A" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Tyr103Ter", "hgvsWellDefined": "NP_001341669.1:p.Tyr103_Val828delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2499252068", "coordinates": [ { "allele": "A", "end": 436, "referenceAllele": "T", "start": 435 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.189T>A" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Tyr63Ter", "hgvsWellDefined": "NP_001341670.1:p.Tyr63_Val788delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932179", "coordinates": [ { "allele": "A", "end": 340, "referenceAllele": "T", "start": 339 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341671.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932636", "coordinates": [ { "allele": "A", "end": 363, "referenceAllele": "T", "start": 362 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341672.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933093", "coordinates": [ { "allele": "A", "end": 398, "referenceAllele": "T", "start": 397 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341673.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933535", "coordinates": [ { "allele": "A", "end": 588, "referenceAllele": "T", "start": 587 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.78T>A" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Tyr26Ter", "hgvsWellDefined": "NP_001341674.1:p.Tyr26_Val751delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827933985", "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "T", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341675.1:p.Tyr55_Val738delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "@id": "http://reg.genome.network/allele/PA2827934375", "coordinates": [ { "allele": "A", "end": 266, "referenceAllele": "T", "start": 265 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.15T>A" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Tyr5Ter", "hgvsWellDefined": "NP_001341676.1:p.Tyr5_Val730delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "@id": "http://reg.genome.network/allele/PA2827934798", "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "T", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.15T>A" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Tyr5Ter", "hgvsWellDefined": "NP_001341677.1:p.Tyr5_Val730delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100422", "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "T", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001350548.1:p.Tyr55_Val749delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "T", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.350T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "A", "end": 986, "referenceAllele": "T", "start": 985 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.986T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "T", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.276T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "T", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.350T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "A", "end": 350, "referenceAllele": "T", "start": 349 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.350T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "T", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.276T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "A", "end": 731, "referenceAllele": "T", "start": 730 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.474T>A" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Tyr158Ter", "hgvsWellDefined": "XP_005269033.1:p.Tyr158_Val883delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "A", "end": 535, "referenceAllele": "T", "start": 534 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.378T>A" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Tyr126Ter", "hgvsWellDefined": "XP_016874958.1:p.Tyr126_Val820delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "A", "end": 511, "referenceAllele": "T", "start": 510 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.387T>A" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Tyr129Ter", "hgvsWellDefined": "XP_024304788.1:p.Tyr129_Val854delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "A", "end": 400, "referenceAllele": "T", "start": 399 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.264T>A" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Tyr88Ter", "hgvsWellDefined": "XP_024304789.1:p.Tyr88_Val813delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "A", "end": 316, "referenceAllele": "T", "start": 315 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.165T>A" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Tyr55Ter", "hgvsWellDefined": "XP_024304790.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034458", "coordinates": [ { "allele": "A", "end": 204, "referenceAllele": "T", "start": 203 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001160159.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826034915", "coordinates": [ { "allele": "A", "end": 293, "referenceAllele": "T", "start": 292 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001160160.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2499252068", "coordinates": [ { "allele": "A", "end": 336, "referenceAllele": "T", "start": 335 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.189T>A" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Tyr63Ter", "hgvsWellDefined": "NP_001341670.1:p.Tyr63_Val788delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932179", "coordinates": [ { "allele": "A", "end": 240, "referenceAllele": "T", "start": 239 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341671.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932636", "coordinates": [ { "allele": "A", "end": 503, "referenceAllele": "T", "start": 502 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341672.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933093", "coordinates": [ { "allele": "A", "end": 264, "referenceAllele": "T", "start": 263 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341673.1:p.Tyr55_Val780delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933535", "coordinates": [ { "allele": "A", "end": 454, "referenceAllele": "T", "start": 453 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.78T>A" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Tyr26Ter", "hgvsWellDefined": "NP_001341674.1:p.Tyr26_Val751delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827933985", "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001341675.1:p.Tyr55_Val738delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "@id": "http://reg.genome.network/allele/PA2827934375", "coordinates": [ { "allele": "A", "end": 166, "referenceAllele": "T", "start": 165 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.15T>A" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Tyr5Ter", "hgvsWellDefined": "NP_001341676.1:p.Tyr5_Val730delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "@id": "http://reg.genome.network/allele/PA2827934798", "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "T", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.15T>A" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Tyr5Ter", "hgvsWellDefined": "NP_001341677.1:p.Tyr5_Val730delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnLeuValValLysArgLeuGlyTyrAspThrArgValThrValLeuGlyHisValGlnArgGlyGlyThrProSerAlaPheAspArgIleLeuGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100422", "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.165T>A" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Tyr55Ter", "hgvsWellDefined": "NP_001350548.1:p.Tyr55_Val749delinsGlnGlyLeuValAspGlyGlyAspHisIleLysGluAlaThrTrpGluSerValSerMetMetLeuGlnLeuGlyGlyThrValIleGlySerAlaArgCysLysAspPheArgGluArgGluGlyArgLeuArgAlaAlaTyrAsnLeuValLysArgGlyIleThrAsnLeuCysValIleGlyGlyAspGlySerLeuThrGlyAlaAspThrPheArgSerGluTrpSerAspLeuLeuSerAspLeuGlnLysAlaGlyLysIleThrAspGluGluAlaThrLysSerSerTyrLeuAsnIleValGlyLeuValGlySerIleAspAsnAspPheCysGlyThrAspMetThrIleGlyThrAspSerAlaLeuHisArgIleMetGluIleValAspAlaIleThrThrThrAlaGlnSerHisGlnArgThrPheValLeuGluValMetGlyArgHisCysGlyTyrLeuAlaLeuValThrSerLeuSerCysGlyAlaAspTrpValPheIleProGluCysProProAspAspAspTrpGluGluHisLeuCysArgArgLeuSerGluThrArgThrArgGlySerArgLeuAsnIleIleIleValAlaGluGlyAlaIleAspLysAsnGlyLysProIleThrSerGluAspIleLysAsnGlySerArgMetGlyValGluAlaValMetAlaLeuLeuGluGlyThrProAspThrProAlaCysValValSerLeuSerGlyAsnGlnAlaValArgLeuProLeuMetGluCysValGlnValThrLysAspValThrLysAlaMetAspGluLysLysPheAspGluAlaLeuLysLeuArgGlyArgSerPheMetAsnAsnTrpGluValTyrLysLeuLeuAlaHisValArgProProValSerLysSerGlySerHisThrValAlaValMetAsnValGlyAlaProAlaAlaGlyMetAsnAlaAlaValArgSerThrValArgIleGlyLeuIleGlnGlyAsnArgValLeuValValHisAspGlyPheGluGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.216T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "T", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.142T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.216T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "A", "end": 216, "referenceAllele": "T", "start": 215 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.216T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "A", "end": 142, "referenceAllele": "T", "start": 141 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.142T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }