{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA384550798", "communityStandardTitle": [ "NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1783139[alleleid]", "alleleId": 1783139, "preferredName": "NM_000289.6(PFKM):c.1321G>T (p.Glu441Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1725612", "RCV": [ "RCV002309296" ], "variationId": 1725612 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48534634G>T?assembly=hg19", "id": "chr12:g.48534634G>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr12:g.48140851G>T?assembly=hg38", "id": "chr12:g.48140851G>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2498539706", "rs": 2498539706 } ] }, "genomicAlleles": [ { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48140851, "referenceAllele": "G", "start": 48140850 } ], "hgvs": [ "NC_000012.12:g.48140851G>T", "CM000674.2:g.48140851G>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000060" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 48534634, "referenceAllele": "G", "start": 48534633 } ], "hgvs": [ "NC_000012.11:g.48534634G>T", "CM000674.1:g.48534634G>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000036" }, { "chromosome": "12", "coordinates": [ { "allele": "T", "end": 46820901, "referenceAllele": "G", "start": 46820900 } ], "hgvs": [ "NC_000012.10:g.46820901G>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000012" }, { "coordinates": [ { "allele": "T", "end": 39979, "referenceAllele": "G", "start": 39978 } ], "hgvs": [ "NG_016199.1:g.39979G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS003005" }, { "coordinates": [ { "allele": "T", "end": 40599, "referenceAllele": "G", "start": 40598 } ], "hgvs": [ "NG_016199.2:g.40599G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS616216" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1667, "referenceAllele": "G", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550257.7:c.1543G>T" ], "proteinEffect": { "hgvs": "ENSP00000447997.3:p.Glu515Ter", "hgvsWellDefined": "ENSP00000447997.3:p.Glu515_Val854delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS914258" }, { "coordinates": [ { "allele": "T", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.12:c.1534G>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Glu512Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS747931" }, { "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.11:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Glu441Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS749241", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.1321G>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.1321G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Glu441Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Glu441Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1463, "referenceAllele": "G", "start": 1462 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000549941.7:c.1228G>T" ], "proteinEffect": { "hgvs": "ENSP00000446829.3:p.Glu410Ter", "hgvsWellDefined": "ENSP00000446829.3:p.Glu410_Val694delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759945" }, { "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "G", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550345.6:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000450369.2:p.Glu441Ter", "hgvsWellDefined": "ENSP00000450369.2:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759957" }, { "coordinates": [ { "allele": "T", "end": 1519, "referenceAllele": "G", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000550924.6:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000446945.2:p.Glu441Ter", "hgvsWellDefined": "ENSP00000446945.2:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759982" }, { "coordinates": [ { "allele": "T", "end": 1465, "referenceAllele": "G", "start": 1464 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551339.6:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000448253.2:p.Glu441Ter", "hgvsWellDefined": "ENSP00000448253.2:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS759999" }, { "coordinates": [ { "allele": "T", "end": 1774, "referenceAllele": "G", "start": 1773 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000642730.1:c.1630G>T" ], "proteinEffect": { "hgvs": "ENSP00000496597.1:p.Glu544Ter", "hgvsWellDefined": "ENSP00000496597.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766899" }, { "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000312352.11:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000309438.7:p.Glu441Ter", "hgvsWellDefined": "ENSP00000309438.7:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS256670" }, { "coordinates": [ { "allele": "T", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000340802.10:c.1534G>T" ], "proteinEffect": { "hgvs": "ENSP00000345771.6:p.Glu512Ter", "hgvsWellDefined": "ENSP00000345771.6:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS261174" }, { "coordinates": [ { "allele": "T", "end": 1510, "referenceAllele": "G", "start": 1509 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000359794.9:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000352842.5:p.Glu441Ter", "hgvsWellDefined": "ENSP00000352842.5:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS264911" }, { "coordinates": [ { "allele": "T", "end": 221, "referenceAllele": "G", "start": 220 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546465.1:c.166G>T" ], "proteinEffect": { "hgvs": "ENSP00000446519.1:p.Glu56Ter", "hgvsWellDefined": "ENSP00000446519.1:p.Glu56_Gly177del" }, "referenceSequence": "http://reg.genome.network/refseq/RS365658" }, { "coordinates": [ { "allele": "T", "end": 1645, "referenceAllele": "G", "start": 1644 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000546964.5:n.1645G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS365992" }, { "coordinates": [ { "allele": "T", "end": 749, "referenceAllele": "G", "start": 748 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547148.5:n.749G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS366096" }, { "coordinates": [ { "allele": "T", "end": 2161, "referenceAllele": "G", "start": 2160 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547581.5:c.*1589G>T" ], "proteinEffect": { "hgvs": "ENSP00000447992.1:n.*1589G>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS366367" }, { "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "G", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000547587.5:c.1321G>T" ], "proteinEffect": { "hgvs": "ENSP00000449426.1:p.Glu441Ter", "hgvsWellDefined": "ENSP00000449426.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS366371" }, { "coordinates": [ { "allele": "T", "end": 1379, "referenceAllele": "G", "start": 1378 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000551804.5:c.1228G>T" ], "proteinEffect": { "hgvs": "ENSP00000448177.1:p.Glu410Ter", "hgvsWellDefined": "ENSP00000448177.1:p.Glu410_Val749delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS368883" }, { "coordinates": [ { "allele": "T", "end": 470, "referenceAllele": "G", "start": 469 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "ENST00000552752.5:c.470G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS369425" }, { "@id": "http://reg.genome.network/allele/PA2825141828", "coordinates": [ { "allele": "T", "end": 1506, "referenceAllele": "G", "start": 1505 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.5:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Glu441Ter", "hgvsWellDefined": "NP_000280.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006350" }, { "@id": "http://reg.genome.network/allele/PA2826034239", "coordinates": [ { "allele": "T", "end": 1808, "referenceAllele": "G", "start": 1807 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.1:c.1534G>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Glu512Ter", "hgvsWellDefined": "NP_001160158.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014933" }, { "@id": "http://reg.genome.network/allele/PA2826034692", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.1:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Glu441Ter", "hgvsWellDefined": "NP_001160159.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014934" }, { "@id": "http://reg.genome.network/allele/PA2826035149", "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "G", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.1:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Glu441Ter", "hgvsWellDefined": "NP_001160160.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS014935" }, { "coordinates": [ { "allele": "T", "end": 1705, "referenceAllele": "G", "start": 1704 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268974.1:c.1630G>T" ], "proteinEffect": { "hgvs": "XP_005269031.1:p.Glu544Ter", "hgvsWellDefined": "XP_005269031.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065947" }, { "coordinates": [ { "allele": "T", "end": 1844, "referenceAllele": "G", "start": 1843 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268975.1:c.1630G>T" ], "proteinEffect": { "hgvs": "XP_005269032.1:p.Glu544Ter", "hgvsWellDefined": "XP_005269032.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065948" }, { "coordinates": [ { "allele": "T", "end": 1749, "referenceAllele": "G", "start": 1748 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.2:c.1630G>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Glu544Ter", "hgvsWellDefined": "XP_005269033.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065949" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268977.1:c.1534G>T" ], "proteinEffect": { "hgvs": "XP_005269034.1:p.Glu512Ter", "hgvsWellDefined": "XP_005269034.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065950" }, { "coordinates": [ { "allele": "T", "end": 1604, "referenceAllele": "G", "start": 1603 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268978.2:c.1534G>T" ], "proteinEffect": { "hgvs": "XP_005269035.1:p.Glu512Ter", "hgvsWellDefined": "XP_005269035.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065951" }, { "coordinates": [ { "allele": "T", "end": 1691, "referenceAllele": "G", "start": 1690 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268979.1:c.1534G>T" ], "proteinEffect": { "hgvs": "XP_005269036.1:p.Glu512Ter", "hgvsWellDefined": "XP_005269036.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS065952" }, { "coordinates": [ { "allele": "T", "end": 1546, "referenceAllele": "G", "start": 1545 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538487.1:c.1537G>T" ], "proteinEffect": { "hgvs": "XP_011536789.1:p.Glu513Ter", "hgvsWellDefined": "XP_011536789.1:p.Glu513_Val852delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105443" }, { "coordinates": [ { "allele": "T", "end": 1347, "referenceAllele": "G", "start": 1346 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_011538488.1:c.1321G>T" ], "proteinEffect": { "hgvs": "XP_011536790.1:p.Glu441Ter", "hgvsWellDefined": "XP_011536790.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS105444" }, { "@id": "http://reg.genome.network/allele/PA2825141828", "coordinates": [ { "allele": "T", "end": 1372, "referenceAllele": "G", "start": 1371 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_000289.6:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_000280.1:p.Glu441Ter", "hgvsWellDefined": "NP_000280.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510776", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000359794.11:c.1321G>T" }, "RefSeq": { "hgvs": "NM_000289.6:c.1321G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000352842.5:p.Glu441Ter" }, "RefSeq": { "hgvs": "NP_000280.1:p.Glu441Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826034239", "coordinates": [ { "allele": "T", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166686.2:c.1534G>T" ], "proteinEffect": { "hgvs": "NP_001160158.1:p.Glu512Ter", "hgvsWellDefined": "NP_001160158.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511680" }, { "@id": "http://reg.genome.network/allele/PA2827929352", "coordinates": [ { "allele": "T", "end": 1776, "referenceAllele": "G", "start": 1775 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354735.1:c.1630G>T" ], "proteinEffect": { "hgvs": "NP_001341664.1:p.Glu544Ter", "hgvsWellDefined": "NP_001341664.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522648" }, { "@id": "http://reg.genome.network/allele/PA2580229019", "coordinates": [ { "allele": "T", "end": 1835, "referenceAllele": "G", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354736.1:c.1630G>T" ], "proteinEffect": { "hgvs": "NP_001341665.1:p.Glu544Ter", "hgvsWellDefined": "NP_001341665.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522649" }, { "@id": "http://reg.genome.network/allele/PA2827930141", "coordinates": [ { "allele": "T", "end": 1739, "referenceAllele": "G", "start": 1738 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354737.1:c.1534G>T" ], "proteinEffect": { "hgvs": "NP_001341666.1:p.Glu512Ter", "hgvsWellDefined": "NP_001341666.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522650" }, { "@id": "http://reg.genome.network/allele/PA2827930604", "coordinates": [ { "allele": "T", "end": 1609, "referenceAllele": "G", "start": 1608 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354738.1:c.1534G>T" ], "proteinEffect": { "hgvs": "NP_001341667.1:p.Glu512Ter", "hgvsWellDefined": "NP_001341667.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522651" }, { "@id": "http://reg.genome.network/allele/PA2827931056", "coordinates": [ { "allele": "T", "end": 1680, "referenceAllele": "G", "start": 1679 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354739.1:c.1534G>T" ], "proteinEffect": { "hgvs": "NP_001341668.1:p.Glu512Ter", "hgvsWellDefined": "NP_001341668.1:p.Glu512_Val851delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522652" }, { "@id": "http://reg.genome.network/allele/PA2827931506", "coordinates": [ { "allele": "T", "end": 1562, "referenceAllele": "G", "start": 1561 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354740.1:c.1465G>T" ], "proteinEffect": { "hgvs": "NP_001341669.1:p.Glu489Ter", "hgvsWellDefined": "NP_001341669.1:p.Glu489_Val828delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522653" }, { "@id": "http://reg.genome.network/allele/PA2827931956", "coordinates": [ { "allele": "T", "end": 1592, "referenceAllele": "G", "start": 1591 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.1:c.1345G>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Glu449Ter", "hgvsWellDefined": "NP_001341670.1:p.Glu449_Val788delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522654" }, { "@id": "http://reg.genome.network/allele/PA2827932413", "coordinates": [ { "allele": "T", "end": 1496, "referenceAllele": "G", "start": 1495 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.1:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Glu441Ter", "hgvsWellDefined": "NP_001341671.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522655" }, { "@id": "http://reg.genome.network/allele/PA2827932870", "coordinates": [ { "allele": "T", "end": 1519, "referenceAllele": "G", "start": 1518 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.1:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Glu441Ter", "hgvsWellDefined": "NP_001341672.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522656" }, { "@id": "http://reg.genome.network/allele/PA2827933327", "coordinates": [ { "allele": "T", "end": 1554, "referenceAllele": "G", "start": 1553 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.1:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Glu441Ter", "hgvsWellDefined": "NP_001341673.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522657" }, { "@id": "http://reg.genome.network/allele/PA2827933762", "coordinates": [ { "allele": "T", "end": 1744, "referenceAllele": "G", "start": 1743 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.1:c.1234G>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Glu412Ter", "hgvsWellDefined": "NP_001341674.1:p.Glu412_Val751delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522658" }, { "@id": "http://reg.genome.network/allele/PA2827934186", "coordinates": [ { "allele": "T", "end": 1380, "referenceAllele": "G", "start": 1379 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.1:c.1195G>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Glu399Ter", "hgvsWellDefined": "NP_001341675.1:p.Glu399_Val738delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522659" }, { "@id": "http://reg.genome.network/allele/PA2827934609", "coordinates": [ { "allele": "T", "end": 1422, "referenceAllele": "G", "start": 1421 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.1:c.1171G>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Glu391Ter", "hgvsWellDefined": "NP_001341676.1:p.Glu391_Val730delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522660" }, { "@id": "http://reg.genome.network/allele/PA2827935027", "coordinates": [ { "allele": "T", "end": 1432, "referenceAllele": "G", "start": 1431 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.1:c.1171G>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Glu391Ter", "hgvsWellDefined": "NP_001341677.1:p.Glu391_Val730delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS522661" }, { "@id": "http://reg.genome.network/allele/PA2828100627", "coordinates": [ { "allele": "T", "end": 1413, "referenceAllele": "G", "start": 1412 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.1:c.1228G>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Glu410Ter", "hgvsWellDefined": "NP_001350548.1:p.Glu410_Val749delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS523434" }, { "coordinates": [ { "allele": "T", "end": 1758, "referenceAllele": "G", "start": 1757 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.1:n.1758G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531400" }, { "coordinates": [ { "allele": "T", "end": 2394, "referenceAllele": "G", "start": 2393 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148955.1:n.2394G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531401" }, { "coordinates": [ { "allele": "T", "end": 1684, "referenceAllele": "G", "start": 1683 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.1:n.1684G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531402" }, { "coordinates": [ { "allele": "T", "end": 1913, "referenceAllele": "G", "start": 1912 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.1:n.1913G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531403" }, { "coordinates": [ { "allele": "T", "end": 1661, "referenceAllele": "G", "start": 1660 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.1:n.1661G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531404" }, { "coordinates": [ { "allele": "T", "end": 1587, "referenceAllele": "G", "start": 1586 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.1:n.1587G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531405" }, { "coordinates": [ { "allele": "T", "end": 1887, "referenceAllele": "G", "start": 1886 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_005268976.3:c.1630G>T" ], "proteinEffect": { "hgvs": "XP_005269033.1:p.Glu544Ter", "hgvsWellDefined": "XP_005269033.1:p.Glu544_Val883delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS536684" }, { "coordinates": [ { "allele": "T", "end": 1598, "referenceAllele": "G", "start": 1597 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_017019469.1:c.1441G>T" ], "proteinEffect": { "hgvs": "XP_016874958.1:p.Glu481Ter", "hgvsWellDefined": "XP_016874958.1:p.Glu481_Val820delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS571173" }, { "coordinates": [ { "allele": "T", "end": 1667, "referenceAllele": "G", "start": 1666 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449020.1:c.1543G>T" ], "proteinEffect": { "hgvs": "XP_024304788.1:p.Glu515Ter", "hgvsWellDefined": "XP_024304788.1:p.Glu515_Val854delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582581" }, { "coordinates": [ { "allele": "T", "end": 1556, "referenceAllele": "G", "start": 1555 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449021.1:c.1420G>T" ], "proteinEffect": { "hgvs": "XP_024304789.1:p.Glu474Ter", "hgvsWellDefined": "XP_024304789.1:p.Glu474_Val813delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582582" }, { "coordinates": [ { "allele": "T", "end": 1472, "referenceAllele": "G", "start": 1471 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "XM_024449022.1:c.1321G>T" ], "proteinEffect": { "hgvs": "XP_024304790.1:p.Glu441Ter", "hgvsWellDefined": "XP_024304790.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582583" }, { "@id": "http://reg.genome.network/allele/PA2826034692", "coordinates": [ { "allele": "T", "end": 1360, "referenceAllele": "G", "start": 1359 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166687.2:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001160159.1:p.Glu441Ter", "hgvsWellDefined": "NP_001160159.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713224" }, { "@id": "http://reg.genome.network/allele/PA2826035149", "coordinates": [ { "allele": "T", "end": 1449, "referenceAllele": "G", "start": 1448 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001166688.2:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001160160.1:p.Glu441Ter", "hgvsWellDefined": "NP_001160160.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS713225" }, { "@id": "http://reg.genome.network/allele/PA2827931956", "coordinates": [ { "allele": "T", "end": 1492, "referenceAllele": "G", "start": 1491 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354741.2:c.1345G>T" ], "proteinEffect": { "hgvs": "NP_001341670.1:p.Glu449Ter", "hgvsWellDefined": "NP_001341670.1:p.Glu449_Val788delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720559" }, { "@id": "http://reg.genome.network/allele/PA2827932413", "coordinates": [ { "allele": "T", "end": 1396, "referenceAllele": "G", "start": 1395 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354742.2:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001341671.1:p.Glu441Ter", "hgvsWellDefined": "NP_001341671.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720560" }, { "@id": "http://reg.genome.network/allele/PA2827932870", "coordinates": [ { "allele": "T", "end": 1659, "referenceAllele": "G", "start": 1658 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354743.2:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001341672.1:p.Glu441Ter", "hgvsWellDefined": "NP_001341672.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720561" }, { "@id": "http://reg.genome.network/allele/PA2827933327", "coordinates": [ { "allele": "T", "end": 1420, "referenceAllele": "G", "start": 1419 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354744.2:c.1321G>T" ], "proteinEffect": { "hgvs": "NP_001341673.1:p.Glu441Ter", "hgvsWellDefined": "NP_001341673.1:p.Glu441_Val780delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720562" }, { "@id": "http://reg.genome.network/allele/PA2827933762", "coordinates": [ { "allele": "T", "end": 1610, "referenceAllele": "G", "start": 1609 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354745.2:c.1234G>T" ], "proteinEffect": { "hgvs": "NP_001341674.1:p.Glu412Ter", "hgvsWellDefined": "NP_001341674.1:p.Glu412_Val751delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720563" }, { "@id": "http://reg.genome.network/allele/PA2827934186", "coordinates": [ { "allele": "T", "end": 1246, "referenceAllele": "G", "start": 1245 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354746.2:c.1195G>T" ], "proteinEffect": { "hgvs": "NP_001341675.1:p.Glu399Ter", "hgvsWellDefined": "NP_001341675.1:p.Glu399_Val738delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720564" }, { "@id": "http://reg.genome.network/allele/PA2827934609", "coordinates": [ { "allele": "T", "end": 1322, "referenceAllele": "G", "start": 1321 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354747.2:c.1171G>T" ], "proteinEffect": { "hgvs": "NP_001341676.1:p.Glu391Ter", "hgvsWellDefined": "NP_001341676.1:p.Glu391_Val730delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720565" }, { "@id": "http://reg.genome.network/allele/PA2827935027", "coordinates": [ { "allele": "T", "end": 1298, "referenceAllele": "G", "start": 1297 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001354748.2:c.1171G>T" ], "proteinEffect": { "hgvs": "NP_001341677.1:p.Glu391Ter", "hgvsWellDefined": "NP_001341677.1:p.Glu391_Val730delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720566" }, { "@id": "http://reg.genome.network/allele/PA2828100627", "coordinates": [ { "allele": "T", "end": 1279, "referenceAllele": "G", "start": 1278 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NM_001363619.2:c.1228G>T" ], "proteinEffect": { "hgvs": "NP_001350548.1:p.Glu410Ter", "hgvsWellDefined": "NP_001350548.1:p.Glu410_Val749delinsGlyLeuAlaLysGlyGlnIleGluGluAlaGlyTrpSerTyrValGlyGlyTrpThrGlyGlnGlyGlySerLysLeuGlyThrLysArgThrLeuProLysLysSerPheGluGlnIleSerAlaAsnIleThrLysPheAsnIleGlnGlyLeuValIleIleGlyGlyPheGluAlaTyrThrGlyGlyLeuGluLeuMetGluGlyArgLysGlnPheAspGluLeuCysIleProPheValValIleProAlaThrValSerAsnAsnValProGlySerAspPheSerValGlyAlaAspThrAlaLeuAsnThrIleCysThrThrCysAspArgIleLysGlnSerAlaAlaGlyThrLysArgArgValPheIleIleGluThrMetGlyGlyTyrCysGlyTyrLeuAlaThrMetAlaGlyLeuAlaAlaGlyAlaAspAlaAlaTyrIlePheGluGluProPheThrIleArgAspLeuGlnAlaAsnValGluHisLeuValGlnLysMetLysThrThrValLysArgGlyLeuValLeuArgAsnGluLysCysAsnGluAsnTyrThrThrAspPheIlePheAsnLeuTyrSerGluGluGlyLysGlyIlePheAspSerArgLysAsnValLeuGlyHisMetGlnGlnGlyGlySerProThrProPheAspArgAsnPheAlaThrLysMetGlyAlaLysAlaMetAsnTrpMetSerGlyLysIleLysGluSerTyrArgAsnGlyArgIlePheAlaAsnThrProAspSerGlyCysValLeuGlyMetArgLysArgAlaLeuValPheGlnProValAlaGluLeuLysAspGlnThrAspPheGluHisArgIleProLysGluGlnTrpTrpLeuLysLeuArgProIleLeuLysIleLeuAlaLysTyrGluIleAspLeuAspThrSerAspHisAlaHisLeuGluHisIleThrArgLysArgSerGlyGluAlaAlaValTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS720765" }, { "coordinates": [ { "allele": "T", "end": 1624, "referenceAllele": "G", "start": 1623 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148954.2:n.1624G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731501" }, { "coordinates": [ { "allele": "T", "end": 1550, "referenceAllele": "G", "start": 1549 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148956.2:n.1550G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731502" }, { "coordinates": [ { "allele": "T", "end": 1779, "referenceAllele": "G", "start": 1778 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148957.2:n.1779G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731503" }, { "coordinates": [ { "allele": "T", "end": 1527, "referenceAllele": "G", "start": 1526 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148958.2:n.1527G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731504" }, { "coordinates": [ { "allele": "T", "end": 1453, "referenceAllele": "G", "start": 1452 } ], "gene": "http://reg.genome.network/gene/GN008877", "geneNCBI_id": 5213, "geneSymbol": "PFKM", "hgvs": [ "NR_148959.2:n.1453G>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS731505" } ], "type": "nucleotide" }