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2867 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.2868G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.2759G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.2762G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "A", "end": 2650, "referenceAllele": "G", "start": 2649 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", 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"ENSP00000506935.1:p.Trp845_Lys1528delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "A", "end": 2627, "referenceAllele": "G", "start": 2626 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*2398G>A" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*2398G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "A", "end": 2832, "referenceAllele": "G", "start": 2831 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.*1089G>A" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:n.*1089G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.2696G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Trp899Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Trp899_Lys1582delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.2693G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Trp898Ter", "hgvsWellDefined": "ENSP00000374467.4:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2693G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.2693G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Trp898Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Trp898Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 2725, "referenceAllele": "G", "start": 2724 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.2690G>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Trp897Ter", "hgvsWellDefined": "ENSP00000493749.1:p.Trp897_Lys1580delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "A", "end": 777, "referenceAllele": "G", "start": 776 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642579.1:c.777G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766821" }, { "coordinates": [ { "allele": "A", "end": 2647, "referenceAllele": "G", "start": 2646 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.2647G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "A", "end": 2528, "referenceAllele": "G", "start": 2527 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.2528G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.2693G>A" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Trp898Ter", "hgvsWellDefined": "ENSP00000494450.1:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "A", "end": 2753, "referenceAllele": "G", "start": 2752 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.*669G>A" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:n.*669G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 737, "referenceAllele": "G", "start": 736 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643925.1:c.737G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767546" }, { "coordinates": [ { "allele": "A", "end": 1049, "referenceAllele": "G", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644447.1:c.1049G>A" ], "proteinEffect": { "hgvs": "ENSP00000496282.1:p.Trp350Ter", "hgvsWellDefined": "ENSP00000496282.1:p.Trp350_Ser680delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgAspArgIleProProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767818" }, { "coordinates": [ { "allele": "A", "end": 2495, "referenceAllele": "G", "start": 2494 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.*1054G>A" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:n.*1054G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "A", "end": 2645, "referenceAllele": "G", "start": 2644 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.*902G>A" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:n.*902G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "A", "end": 2616, "referenceAllele": "G", "start": 2615 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*2398G>A" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*2398G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "A", "end": 2821, "referenceAllele": "G", "start": 2820 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.*865G>A" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:n.*865G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*998G>A" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*998G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "A", "end": 2790, "referenceAllele": "G", "start": 2789 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.2759G>A" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Trp920Ter", "hgvsWellDefined": "ENSP00000494321.1:p.Trp920_Lys1603delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "A", "end": 1945, "referenceAllele": "G", "start": 1944 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.1945G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "A", "end": 2141, "referenceAllele": "G", "start": 2140 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.*1057G>A" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*1057G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "A", "end": 2968, "referenceAllele": "G", "start": 2967 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.2968G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "A", "end": 2761, "referenceAllele": "G", "start": 2760 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.2693G>A" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Trp898Ter", "hgvsWellDefined": "ENSP00000495516.1:p.Trp898_Pro980delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "A", "end": 2531, "referenceAllele": "G", "start": 2530 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.*749G>A" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.*749G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "A", "end": 2538, "referenceAllele": "G", "start": 2537 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.*1057G>A" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:n.*1057G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "A", "end": 2704, "referenceAllele": "G", "start": 2703 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.*966G>A" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:n.*966G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "A", "end": 1919, "referenceAllele": "G", "start": 1918 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.1919G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "A", "end": 2758, "referenceAllele": "G", "start": 2757 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.2690G>A" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Trp897Ter", "hgvsWellDefined": "ENSP00000494101.1:p.Trp897_Lys1570delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "A", "end": 2824, "referenceAllele": "G", "start": 2823 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*1089G>A" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*1089G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "A", "end": 2699, "referenceAllele": "G", "start": 2698 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.2699G>A" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.2699G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "A", "end": 2512, "referenceAllele": "G", "start": 2511 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.2444G>A" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:p.Trp815Ter", "hgvsWellDefined": "ENSP00000495389.1:p.Trp815_Lys1498delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "A", "end": 4568, "referenceAllele": "G", "start": 4567 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*2423G>A" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*2423G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "A", "end": 2643, "referenceAllele": "G", "start": 2642 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*834G>A" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*834G>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.2696G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Trp899Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Trp899_Lys1582delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.2693G>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Trp898Ter", "hgvsWellDefined": "ENSP00000374467.3:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 377, "referenceAllele": "G", "start": 376 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526921.5:n.377G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352714" }, { "coordinates": [ { "allele": "A", "end": 2706, "referenceAllele": "G", "start": 2705 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.2663G>A" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Trp888Ter", "hgvsWellDefined": "ENSP00000431653.1:p.Trp888_Pro997delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysArgArgGlnLeuArgAlaArgArgMetThrThrCysArgProCysCysThrSerValLeuArgSerHisGlyGluProAlaProSerThrCysProProProAlaSerCysSerCysArgCysTrpSerSerHisSerCysSerSerThrTrpSerTrpTrpProSerThrThrGlyTrpProSerGlyProThrAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "A", "end": 362, "referenceAllele": "G", "start": 361 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.5:n.362G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355293" }, { "coordinates": [ { "allele": "A", "end": 276, "referenceAllele": "G", "start": 275 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000530147.5:n.276G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355446" }, { "@id": "http://reg.genome.network/allele/PA2825148311", "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.2693G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Trp898Ter", "hgvsWellDefined": "NP_000343.2:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA913201555", "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.2696G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp899Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp899_Lys1582delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 2756, "referenceAllele": "G", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.2693G>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Trp898Ter", "hgvsWellDefined": "XP_011518633.1:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.2696G>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Trp899Ter", "hgvsWellDefined": "XP_011518634.1:p.Trp899_His1477delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 1315, "referenceAllele": "G", "start": 1314 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.1193G>A" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Trp398Ter", "hgvsWellDefined": "XP_011518635.1:p.Trp398_Lys1081delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.2696G>A" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Trp899Ter", "hgvsWellDefined": "XP_011518636.1:p.Trp899_Pro981delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.2759G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.2759G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.2759G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "A", "end": 2756, "referenceAllele": "G", "start": 2755 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.2756G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA916030869", "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "G", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.2759G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Trp920Ter", "hgvsWellDefined": "NP_001338224.1:p.Trp920_Lys1603delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604581", "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.2693G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Trp898Ter", "hgvsWellDefined": "NP_001338225.1:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605805", "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.2690G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Trp897Ter", "hgvsWellDefined": "NP_001338226.1:p.Trp897_Lys1580delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.2762G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "G", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.2762G>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Trp921Ter", "hgvsWellDefined": "XP_016873686.1:p.Trp921_Lys1604delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 2830, "referenceAllele": "G", "start": 2829 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.2759G>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Trp920Ter", "hgvsWellDefined": "XP_016873688.1:p.Trp920_Lys1603delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "G", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.2762G>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Trp921Ter", "hgvsWellDefined": "XP_016873690.1:p.Trp921_His1499delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 2626, "referenceAllele": "G", "start": 2625 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.1259G>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Trp420Ter", "hgvsWellDefined": "XP_016873691.1:p.Trp420_Lys1103delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 1738, "referenceAllele": "G", "start": 1737 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.650G>A" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Trp217Ter", "hgvsWellDefined": "XP_016873693.1:p.Trp217_Lys900delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "A", "end": 3777, "referenceAllele": "G", "start": 3776 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1061G>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Trp354Ter", "hgvsWellDefined": "XP_024304436.1:p.Trp354_Lys1037delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "G", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.2834G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.2765G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 2834, "referenceAllele": "G", "start": 2833 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.2834G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148311", "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.2693G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Trp898Ter", "hgvsWellDefined": "NP_000343.2:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.2693G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.2693G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Trp898Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Trp898Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA913201555", "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.2696G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp899Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp899_Lys1582delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030869", "coordinates": [ { "allele": "A", "end": 2828, "referenceAllele": "G", "start": 2827 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.2759G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Trp920Ter", "hgvsWellDefined": "NP_001338224.1:p.Trp920_Lys1603delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604581", "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.2693G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Trp898Ter", "hgvsWellDefined": "NP_001338225.1:p.Trp898_Lys1581delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605805", "coordinates": [ { "allele": "A", "end": 2759, "referenceAllele": "G", "start": 2758 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.2690G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Trp897Ter", "hgvsWellDefined": "NP_001338226.1:p.Trp897_Lys1580delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 2762, "referenceAllele": "G", "start": 2761 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.2762G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA913201555", "coordinates": [ { "allele": "A", "end": 2765, "referenceAllele": "G", "start": 2764 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.2696G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp899Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp899_Lys1582delinsIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }