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"http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.2485C>T" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Gln829Ter", "hgvsWellDefined": "XP_016873691.1:p.Gln829_Lys1103delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "T", "end": 2964, "referenceAllele": "C", "start": 2963 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.1876C>T" ], "proteinEffect": { "hgvs": "XP_016873693.1:p.Gln626Ter", "hgvsWellDefined": "XP_016873693.1:p.Gln626_Lys900delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "T", "end": 5003, "referenceAllele": "C", "start": 5002 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.2287C>T" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Gln763Ter", "hgvsWellDefined": "XP_024304436.1:p.Gln763_Lys1037delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "T", "end": 4060, "referenceAllele": "C", "start": 4059 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.4060C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "T", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.3991C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "T", "end": 4510, "referenceAllele": "C", "start": 4509 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.4510C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148657", "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "C", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.3919C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Gln1307Ter", "hgvsWellDefined": "NP_000343.2:p.Gln1307_Lys1581delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.3919C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.3919C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Gln1307Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Gln1307Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2826733923", "coordinates": [ { "allele": "T", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.3922C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln1308Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln1308_Lys1582delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "@id": "http://reg.genome.network/allele/PA2580216108", "coordinates": [ { "allele": "T", "end": 4054, "referenceAllele": "C", "start": 4053 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.3985C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Gln1329Ter", "hgvsWellDefined": "NP_001338224.1:p.Gln1329_Lys1603delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604873", "coordinates": [ { "allele": "T", "end": 3988, "referenceAllele": "C", "start": 3987 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.3919C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Gln1307Ter", "hgvsWellDefined": "NP_001338225.1:p.Gln1307_Lys1581delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827606096", "coordinates": [ { "allele": "T", "end": 3985, "referenceAllele": "C", "start": 3984 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.3916C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Gln1306Ter", "hgvsWellDefined": "NP_001338226.1:p.Gln1306_Lys1580delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "T", "end": 4068, "referenceAllele": "C", "start": 4067 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.4068C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA2826733923", "coordinates": [ { "allele": "T", "end": 3991, "referenceAllele": "C", "start": 3990 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.3922C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Gln1308Ter", "hgvsWellDefined": "NP_001274103.1:p.Gln1308_Lys1582delinsLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }