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"ENST00000302539.9:c.3110G>A" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Trp1037Ter", "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.3107G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.3107G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Trp1036Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Trp1036Ter" } } } }, { "coordinates": [ { "allele": "A", "end": 3139, "referenceAllele": "G", "start": 3138 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.3104G>A" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Trp1035Ter", "hgvsWellDefined": "ENSP00000493749.1:p.Trp1035_Lys1580delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" 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"end": 3176, "referenceAllele": "G", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.3107G>A" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Trp1036Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "A", "end": 239, "referenceAllele": "G", "start": 238 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.1:n.239G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS350700" }, { "coordinates": [ { "allele": "A", "end": 791, "referenceAllele": "G", "start": 790 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526921.5:n.791G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS352714" }, { "coordinates": [ { "allele": "A", "end": 3020, "referenceAllele": "G", "start": 3019 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.2977G>A" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Gly993Arg", "hgvsWellDefined": "ENSP00000431653.1:p.Gly993Arg" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "A", "end": 776, "referenceAllele": "G", "start": 775 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000529967.5:n.776G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS355293" }, { "@id": "http://reg.genome.network/allele/PA2825148419", "coordinates": [ { "allele": "A", "end": 3176, "referenceAllele": "G", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.3107G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Trp1036Ter", "hgvsWellDefined": "NP_000343.2:p.Trp1036_Lys1581delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA645510706", "coordinates": [ { "allele": "A", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.3110G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp1037Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp1037_Lys1582delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "A", "end": 3170, "referenceAllele": "G", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.3107G>A" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Trp1036Ter", "hgvsWellDefined": "XP_011518633.1:p.Trp1036_Lys1581delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.3110G>A" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Trp1037Ter", "hgvsWellDefined": "XP_011518634.1:p.Trp1037_His1477delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "A", "end": 1729, "referenceAllele": "G", "start": 1728 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.1607G>A" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Trp536Ter", "hgvsWellDefined": "XP_011518635.1:p.Trp536_Lys1081delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.3173G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.3173G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "A", "end": 3073, "referenceAllele": "G", "start": 3072 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.3073G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "A", "end": 3070, "referenceAllele": "G", "start": 3069 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.3070G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "@id": "http://reg.genome.network/allele/PA916030875", "coordinates": [ { "allele": "A", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.3173G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Trp1058Ter", "hgvsWellDefined": "NP_001338224.1:p.Trp1058_Lys1603delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604676", "coordinates": [ { "allele": "A", "end": 3176, "referenceAllele": "G", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.3107G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Trp1036Ter", "hgvsWellDefined": "NP_001338225.1:p.Trp1036_Lys1581delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605899", "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.3104G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Trp1035Ter", "hgvsWellDefined": "NP_001338226.1:p.Trp1035_Lys1580delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "G", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.3256G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "A", "end": 3248, "referenceAllele": "G", "start": 3247 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.3176G>A" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Trp1059Ter", "hgvsWellDefined": "XP_016873686.1:p.Trp1059_Lys1604delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "A", "end": 3244, "referenceAllele": "G", "start": 3243 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.3173G>A" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Trp1058Ter", "hgvsWellDefined": "XP_016873688.1:p.Trp1058_Lys1603delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "A", "end": 3248, "referenceAllele": "G", "start": 3247 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.3176G>A" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Trp1059Ter", "hgvsWellDefined": "XP_016873690.1:p.Trp1059_His1499delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "A", "end": 3040, "referenceAllele": "G", "start": 3039 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.1673G>A" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Trp558Ter", "hgvsWellDefined": "XP_016873691.1:p.Trp558_Lys1103delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "A", "end": 2152, "referenceAllele": "G", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.1064G>A" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Trp355Ter", "hgvsWellDefined": "XP_016873693.1:p.Trp355_Lys900delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "A", "end": 4191, "referenceAllele": "G", "start": 4190 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.1475G>A" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Trp492Ter", "hgvsWellDefined": "XP_024304436.1:p.Trp492_Lys1037delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "A", "end": 3248, "referenceAllele": "G", "start": 3247 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.3248G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "A", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.3179G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "A", "end": 3328, "referenceAllele": "G", "start": 3327 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.3328G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148419", "coordinates": [ { "allele": "A", "end": 3176, "referenceAllele": "G", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.3107G>A" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Trp1036Ter", "hgvsWellDefined": "NP_000343.2:p.Trp1036_Lys1581delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.3107G>A" }, "RefSeq": { "hgvs": "NM_000352.6:c.3107G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Trp1036Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Trp1036Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645510706", "coordinates": [ { "allele": "A", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.3110G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp1037Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp1037_Lys1582delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA916030875", "coordinates": [ { "allele": "A", "end": 3242, "referenceAllele": "G", "start": 3241 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.3173G>A" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Trp1058Ter", "hgvsWellDefined": "NP_001338224.1:p.Trp1058_Lys1603delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604676", "coordinates": [ { "allele": "A", "end": 3176, "referenceAllele": "G", "start": 3175 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.3107G>A" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Trp1036Ter", "hgvsWellDefined": "NP_001338225.1:p.Trp1036_Lys1581delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605899", "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.3104G>A" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Trp1035Ter", "hgvsWellDefined": "NP_001338226.1:p.Trp1035_Lys1580delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "A", "end": 3256, "referenceAllele": "G", "start": 3255 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.3256G>A" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA645510706", "coordinates": [ { "allele": "A", "end": 3179, "referenceAllele": "G", "start": 3178 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.3110G>A" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Trp1037Ter", "hgvsWellDefined": "NP_001274103.1:p.Trp1037_Lys1582delinsThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }