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"ENST00000302539.9:c.3450T>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Cys1150Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Cys1150_Lys1582delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "T", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.3447T>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Cys1149Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.3447T>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.3447T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Cys1149Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Cys1149Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3479, "referenceAllele": "T", "start": 3478 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.3444T>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Cys1148Ter", "hgvsWellDefined": 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"ENSP00000494450.1:p.Cys1149_Lys1581delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "A", "end": 3507, "referenceAllele": "T", "start": 3506 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.*1423T>A" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:n.*1423T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "A", "end": 1571, "referenceAllele": "T", "start": 1570 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643925.1:c.1571T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS767546" }, { "coordinates": [ { "allele": "A", "end": 1803, "referenceAllele": "T", "start": 1802 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644447.1:c.1803T>A" ], "proteinEffect": { "hgvs": 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"ENSP00000494321.1:p.Cys1171_Lys1603delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "A", "end": 5322, "referenceAllele": "T", "start": 5321 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.*3177T>A" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:n.*3177T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "A", "end": 3397, "referenceAllele": "T", "start": 3396 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.*1588T>A" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.*1588T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "T", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "T", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.3447T>A" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Cys1149Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 579, "referenceAllele": "T", "start": 578 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.1:n.579T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350700" }, { "coordinates": [ { "allele": "A", "end": 3360, "referenceAllele": "T", "start": 3359 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.*323T>A" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:n.*323T>A" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "@id": "http://reg.genome.network/allele/PA2825148507", "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "T", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.3447T>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Cys1149Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA2826733821", "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "T", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.3450T>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Cys1150Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 3510, "referenceAllele": "T", "start": 3509 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.3447T>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Cys1149Ter", "hgvsWellDefined": "XP_011518633.1:p.Cys1149_Lys1581delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 3513, "referenceAllele": "T", "start": 3512 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.3450T>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Cys1150Ter", "hgvsWellDefined": "XP_011518634.1:p.Cys1150_His1477delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 2069, "referenceAllele": "T", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.1947T>A" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Cys649Ter", "hgvsWellDefined": "XP_011518635.1:p.Cys649_Lys1081delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "A", "end": 3513, "referenceAllele": "T", "start": 3512 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.3513T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "A", "end": 3413, "referenceAllele": "T", "start": 3412 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.3413T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "A", "end": 3410, "referenceAllele": "T", "start": 3409 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.3410T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA2741864928", "coordinates": [ { "allele": "A", "end": 3582, "referenceAllele": "T", "start": 3581 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.3513T>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Cys1171Ter", "hgvsWellDefined": "NP_001338224.1:p.Cys1171_Lys1603delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604749", "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "T", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.3447T>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Cys1149Ter", "hgvsWellDefined": "NP_001338225.1:p.Cys1149_Lys1581delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605972", "coordinates": [ { "allele": "A", "end": 3513, "referenceAllele": "T", "start": 3512 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.3444T>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Cys1148Ter", "hgvsWellDefined": "NP_001338226.1:p.Cys1148_Lys1580delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 3596, "referenceAllele": "T", "start": 3595 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.3596T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 3588, "referenceAllele": "T", "start": 3587 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.3516T>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Cys1172Ter", "hgvsWellDefined": "XP_016873686.1:p.Cys1172_Lys1604delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 3584, "referenceAllele": "T", "start": 3583 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.3513T>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Cys1171Ter", "hgvsWellDefined": "XP_016873688.1:p.Cys1171_Lys1603delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 3588, "referenceAllele": "T", "start": 3587 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.3516T>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Cys1172Ter", "hgvsWellDefined": "XP_016873690.1:p.Cys1172_His1499delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 3380, "referenceAllele": "T", "start": 3379 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.2013T>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Cys671Ter", "hgvsWellDefined": "XP_016873691.1:p.Cys671_Lys1103delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 2492, "referenceAllele": "T", "start": 2491 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.1404T>A" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Cys468Ter", "hgvsWellDefined": "XP_016873693.1:p.Cys468_Lys900delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "A", "end": 4531, "referenceAllele": "T", "start": 4530 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1815T>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Cys605Ter", "hgvsWellDefined": "XP_024304436.1:p.Cys605_Lys1037delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 3588, "referenceAllele": "T", "start": 3587 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.3588T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "T", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.3519T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 3668, "referenceAllele": "T", "start": 3667 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.3668T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148507", "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "T", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.3447T>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Cys1149Ter", "hgvsWellDefined": "NP_000343.2:p.Cys1149_Lys1581delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.3447T>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.3447T>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Cys1149Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Cys1149Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826733821", "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "T", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.3450T>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Cys1150Ter", "hgvsWellDefined": "NP_001274103.1:p.Cys1150_Lys1582delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA2741864928", "coordinates": [ { "allele": "A", "end": 3582, "referenceAllele": "T", "start": 3581 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.3513T>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Cys1171Ter", "hgvsWellDefined": "NP_001338224.1:p.Cys1171_Lys1603delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604749", "coordinates": [ { "allele": "A", "end": 3516, "referenceAllele": "T", "start": 3515 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.3447T>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Cys1149Ter", "hgvsWellDefined": "NP_001338225.1:p.Cys1149_Lys1581delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605972", "coordinates": [ { "allele": "A", "end": 3513, "referenceAllele": "T", "start": 3512 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.3444T>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Cys1148Ter", "hgvsWellDefined": "NP_001338226.1:p.Cys1148_Lys1580delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 3596, "referenceAllele": "T", "start": 3595 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.3596T>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA2826733821", "coordinates": [ { "allele": "A", "end": 3519, "referenceAllele": "T", "start": 3518 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.3450T>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Cys1150Ter", "hgvsWellDefined": "NP_001274103.1:p.Cys1150_Lys1582delinsValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }