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], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*1185-288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "T", "end": 3132, "referenceAllele": "C", "start": 3131 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.3132C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "T", "end": 2925, "referenceAllele": "C", "start": 2924 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.2857C>T" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Gln953Ter", "hgvsWellDefined": "ENSP00000495516.1:p.Gln953_Pro980delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "T", "end": 2658, 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "T", "end": 4732, "referenceAllele": "C", "start": 4731 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*2587C>T" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*2587C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "T", "end": 2807, "referenceAllele": "C", "start": 2806 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*998C>T" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*998C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "T", "end": 2929, "referenceAllele": "C", "start": 2928 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.2860C>T" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Gln954Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Gln954_Lys1582delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.2857C>T" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Gln953Ter", "hgvsWellDefined": "ENSP00000374467.3:p.Gln953_Lys1581delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "T", "end": 541, "referenceAllele": "C", "start": 540 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526921.5:n.541C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS352714" }, { "coordinates": [ { "allele": "T", "end": 2833, "endIntronDirection": "-", "endIntronOffset": 287, "referenceAllele": "C", "start": 2833, "startIntronDirection": "-", "startIntronOffset": 288 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.2791-288C>T" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:n.2791-288C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "T", "end": 526, "referenceAllele": "C", "start": 525 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.5:n.526C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS355293" }, { "@id": "http://reg.genome.network/allele/PA274109", "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.2857C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Gln953Ter", "hgvsWellDefined": "NP_000343.2:p.Gln953_Lys1581delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA274110", "coordinates": [ { "allele": "T", "end": 2929, "referenceAllele": "C", "start": 2928 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.2860C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln954Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln954_Lys1582delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "T", "end": 2920, "referenceAllele": "C", "start": 2919 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.2857C>T" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Gln953Ter", "hgvsWellDefined": "XP_011518633.1:p.Gln953_Lys1581delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.2860C>T" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Gln954Ter", "hgvsWellDefined": "XP_011518634.1:p.Gln954_His1477delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "T", "end": 1479, "referenceAllele": "C", "start": 1478 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.1357C>T" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Gln453Ter", "hgvsWellDefined": "XP_011518635.1:p.Gln453_Lys1081delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.2860C>T" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Gln954Ter", "hgvsWellDefined": "XP_011518636.1:p.Gln954_Pro981delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.2923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.2923C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "T", "end": 2886, "endIntronDirection": "-", "endIntronOffset": 287, "referenceAllele": "C", "start": 2886, "startIntronDirection": "-", "startIntronOffset": 288 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.2887-288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "T", "end": 2883, "endIntronDirection": "-", "endIntronOffset": 287, "referenceAllele": "C", "start": 2883, "startIntronDirection": "-", "startIntronOffset": 288 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.2884-288C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA916030871", "coordinates": [ { "allele": "T", "end": 2992, "referenceAllele": "C", "start": 2991 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.2923C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Gln975Ter", "hgvsWellDefined": "NP_001338224.1:p.Gln975_Lys1603delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604609", "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.2857C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Gln953Ter", "hgvsWellDefined": "NP_001338225.1:p.Gln953_Lys1581delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605833", "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.2854C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Gln952Ter", "hgvsWellDefined": "NP_001338226.1:p.Gln952_Lys1580delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.2926C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "T", "end": 2998, "referenceAllele": "C", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.2926C>T" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Gln976Ter", "hgvsWellDefined": "XP_016873686.1:p.Gln976_Lys1604delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "T", "end": 2994, "referenceAllele": "C", "start": 2993 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.2923C>T" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Gln975Ter", "hgvsWellDefined": "XP_016873688.1:p.Gln975_Lys1603delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "T", "end": 2998, "referenceAllele": "C", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.2926C>T" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Gln976Ter", "hgvsWellDefined": "XP_016873690.1:p.Gln976_His1499delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "T", "end": 2790, "referenceAllele": "C", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.1423C>T" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Gln475Ter", "hgvsWellDefined": "XP_016873691.1:p.Gln475_Lys1103delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "T", "end": 1902, "referenceAllele": "C", "start": 1901 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.814C>T" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Gln272Ter", "hgvsWellDefined": "XP_016873693.1:p.Gln272_Lys900delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "T", "end": 3941, "referenceAllele": "C", "start": 3940 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1225C>T" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Gln409Ter", "hgvsWellDefined": "XP_024304436.1:p.Gln409_Lys1037delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "T", "end": 2998, "referenceAllele": "C", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.2998C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "T", "end": 2929, "referenceAllele": "C", "start": 2928 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.2929C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "T", "end": 2998, "referenceAllele": "C", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.2998C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA274109", "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.2857C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Gln953Ter", "hgvsWellDefined": "NP_000343.2:p.Gln953_Lys1581delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2857C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.2857C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Gln953Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Gln953Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA274110", "coordinates": [ { "allele": "T", "end": 2929, "referenceAllele": "C", "start": 2928 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.2860C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln954Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln954_Lys1582delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030871", "coordinates": [ { "allele": "T", "end": 2992, "referenceAllele": "C", "start": 2991 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.2923C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Gln975Ter", "hgvsWellDefined": "NP_001338224.1:p.Gln975_Lys1603delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604609", "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.2857C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Gln953Ter", "hgvsWellDefined": "NP_001338225.1:p.Gln953_Lys1581delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605833", "coordinates": [ { "allele": "T", "end": 2923, "referenceAllele": "C", "start": 2922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.2854C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Gln952Ter", "hgvsWellDefined": "NP_001338226.1:p.Gln952_Lys1580delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "T", "end": 2926, "referenceAllele": "C", "start": 2925 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.2926C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA274110", "coordinates": [ { "allele": "T", "end": 2929, "referenceAllele": "C", "start": 2928 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.2860C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln954Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln954_Lys1582delinsGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }