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"geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.2389C>T" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Gln797Ter", "hgvsWellDefined": "XP_024304436.1:p.Gln797_Lys1037delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { 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"start": 4089 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.4021C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Gln1341Ter", "hgvsWellDefined": "NP_000343.2:p.Gln1341_Lys1581delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.4021C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.4021C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Gln1341Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Gln1341Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645438574", "coordinates": [ { "allele": "T", "end": 4093, "referenceAllele": "C", "start": 4092 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.4024C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln1342Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln1342_Lys1582delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030911", "coordinates": [ { "allele": "T", "end": 4156, "referenceAllele": "C", "start": 4155 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.4087C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Gln1363Ter", "hgvsWellDefined": "NP_001338224.1:p.Gln1363_Lys1603delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604903", "coordinates": [ { "allele": "T", "end": 4090, "referenceAllele": "C", "start": 4089 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.4021C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Gln1341Ter", "hgvsWellDefined": "NP_001338225.1:p.Gln1341_Lys1581delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827606127", "coordinates": [ { "allele": "T", "end": 4087, "referenceAllele": "C", "start": 4086 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.4018C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Gln1340Ter", "hgvsWellDefined": "NP_001338226.1:p.Gln1340_Lys1580delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "T", "end": 4316, "referenceAllele": "C", "start": 4315 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.4316C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA645438574", "coordinates": [ { "allele": "T", "end": 4093, "referenceAllele": "C", "start": 4092 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.4024C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln1342Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln1342_Lys1582delinsGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }