{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA5903454", "communityStandardTitle": [ "NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=429210[alleleid]", "alleleId": 429210, "preferredName": "NM_000352.6(ABCC8):c.1792C>T (p.Arg598Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/434056", "RCV": [ "RCV000500331", "RCV001380990", "RCV001797741", "RCV001829422", "RCV002496936", "RCV003470626", "RCV004535574" ], "variationId": 434056 } ], "ExAC": [ { "@id": "http://exac.broadinstitute.org/variant/11-17452386-G-A", "id": "11-17452386-G-A", "variant": "11:17452386 G / A" } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17452386G>A?assembly=hg19", "id": "chr11:g.17452386G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr11:g.17430839G>A?assembly=hg38", "id": "chr11:g.17430839G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/139328569", "rs": 139328569 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17452386-G-A?dataset=gnomad_r2_1", "id": "11-17452386-G-A", "variant": "11:17452386 G / A" } ], "gnomAD_3": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17430839-G-A?dataset=gnomad_r3", "id": "11-17430839-G-A", "variant": "11:17430839 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/11-17430839-G-A?dataset=gnomad_r4", "id": "11-17430839-G-A", "variant": "11:17430839 G / A" } ] }, "genomicAlleles": [ { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 17430839, "referenceAllele": "G", "start": 17430838 } ], "hgvs": [ "NC_000011.10:g.17430839G>A", "CM000673.2:g.17430839G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000059" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 17452386, "referenceAllele": "G", "start": 17452385 } ], "hgvs": [ "NC_000011.9:g.17452386G>A", "CM000673.1:g.17452386G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000035" }, { "chromosome": "11", "coordinates": [ { "allele": "A", "end": 17408962, "referenceAllele": "G", "start": 17408961 } ], "hgvs": [ "NC_000011.8:g.17408962G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000011" }, { "coordinates": [ { "allele": "T", "end": 51064, "referenceAllele": "C", "start": 51063 } ], "hgvs": [ "NG_008867.1:g.51064C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001262" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1429, "referenceAllele": "C", "start": 1428 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000524561.2:n.1429C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825694" }, { "coordinates": [ { "allele": "T", "end": 1819, "referenceAllele": "C", "start": 1818 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526002.2:n.1819C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825714" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528202.6:n.1931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS825750" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.2:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS826721" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682051.1:n.1805C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827049" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682110.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827107" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682140.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000507829.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000507829.1:p.Arg597_His1359delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAspArgAspLeuArgProHisArgGlnTrpGluValLeuLeuLeuSerCysLeuLeuProHisGlyGlyHisValArgArgAlaHisHisHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827137" }, { "coordinates": [ { "allele": "T", "end": 3097, "referenceAllele": "C", "start": 3096 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682185.1:n.3097C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827182" }, { "coordinates": [ { "allele": "T", "end": 1737, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1737, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682204.1:c.1668+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000507094.1:n.1668+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827200" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682215.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827211" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682288.1:c.*188C>T" ], "proteinEffect": { "hgvs": "ENSP00000507506.1:n.*188C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS827283" }, { "coordinates": [ { "allele": "T", "end": 1979, "referenceAllele": "C", "start": 1978 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682442.1:n.1979C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827432" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682528.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827518" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682673.1:n.1805C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827662" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682805.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS827794" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000682965.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000508229.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000508229.1:p.Arg597_Gly1138delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnGlyProAlaAlaAlaGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS827953" }, { "coordinates": [ { "allele": "T", "end": 1960, "referenceAllele": "C", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683093.1:n.1960C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828078" }, { "coordinates": [ { "allele": "T", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683136.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000507768.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000507768.1:p.Arg597_Lys1542delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828121" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683153.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828138" }, { "coordinates": [ { "allele": "T", "end": 2874, "referenceAllele": "C", "start": 2873 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683253.1:n.2874C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828235" }, { "coordinates": [ { "allele": "T", "end": 1960, "referenceAllele": "C", "start": 1959 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683365.1:n.1960C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828345" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683377.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828356" }, { "coordinates": [ { "allele": "T", "end": 1867, "referenceAllele": "C", "start": 1866 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683456.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000508318.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000508318.1:p.Arg597_Pro980delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828432" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683522.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828496" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683531.1:n.1861C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828505" }, { "coordinates": [ { "allele": "T", "end": 1907, "referenceAllele": "C", "start": 1906 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683562.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000508265.1:p.Arg598Ter", "hgvsWellDefined": "ENSP00000508265.1:p.Arg598_Ser620delinsSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828535" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683693.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828664" }, { "coordinates": [ { "allele": "T", "end": 1817, "referenceAllele": "C", "start": 1816 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000683725.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507496.1:p.Arg598Ter", "hgvsWellDefined": "ENSP00000507496.1:p.Arg598_His1476delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS828696" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684010.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS828972" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684157.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829115" }, { "coordinates": [ { "allele": "T", "end": 1789, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1789, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684253.1:n.1789+1365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829210" }, { "coordinates": [ { "allele": "T", "end": 1868, "referenceAllele": "C", "start": 1867 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684288.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000507143.1:p.Arg598Ter", "hgvsWellDefined": "ENSP00000507143.1:p.Arg598_Ser620delinsSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829244" }, { "coordinates": [ { "allele": "T", "end": 1723, "endIntronDirection": "+", "endIntronOffset": 11881, "referenceAllele": "C", "start": 1723, "startIntronDirection": "+", "startIntronOffset": 11880 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684313.1:n.1723+11881C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829269" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684332.1:n.1931C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829287" }, { "coordinates": [ { "allele": "T", "end": 1805, "referenceAllele": "C", "start": 1804 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684371.1:n.1805C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829326" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684404.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829359" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684442.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS829396" }, { "coordinates": [ { "allele": "T", "end": 1739, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1739, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684555.1:c.1671+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000507705.1:n.1671+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829508" }, { "coordinates": [ { "allele": "T", "end": 1674, "referenceAllele": "C", "start": 1673 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684571.1:c.1633C>T" ], "proteinEffect": { "hgvs": "ENSP00000506935.1:p.Arg545Ter", "hgvsWellDefined": "ENSP00000506935.1:p.Arg545_Lys1528delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS829524" }, { "coordinates": [ { "allele": "T", "end": 1726, "referenceAllele": "C", "start": 1725 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684593.1:c.*1497C>T" ], "proteinEffect": { "hgvs": "ENSP00000507005.1:n.*1497C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829545" }, { "coordinates": [ { "allele": "T", "end": 1931, "referenceAllele": "C", "start": 1930 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000684711.1:c.*188C>T" ], "proteinEffect": { "hgvs": "ENSP00000506841.1:n.*188C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS829662" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.9:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg598Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Arg598_Lys1582delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS744957" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.8:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000374467.4:p.Arg598Ter", "hgvsWellDefined": "ENSP00000374467.4:p.Arg598_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS752843", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.1792C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.1792C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg598Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg598Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1398, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1398, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.6:c.1398+1365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS759302" }, { "coordinates": [ { "allele": "T", "end": 1820, "referenceAllele": "C", "start": 1819 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000635881.1:n.1820C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS762707" }, { "coordinates": [ { "allele": "T", "end": 1824, "referenceAllele": "C", "start": 1823 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642271.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000493749.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000493749.1:p.Arg597_Lys1580delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS766651" }, { "coordinates": [ { "allele": "T", "end": 1743, "referenceAllele": "C", "start": 1742 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642611.1:n.1743C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766837" }, { "coordinates": [ { "allele": "T", "end": 1652, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1652, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000642902.1:c.1652+1365C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS766980" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643260.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000494450.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000494450.1:p.Arg597_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767182" }, { "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000643562.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000496124.1:p.Arg598Ter", "hgvsWellDefined": "ENSP00000496124.1:p.Arg598_Cys671delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValGlyCysGluProGlnAlaSerSerProGlyGlyLeuSerGlyProHisArgProThrAlaGluProGlyProGlnCysArgTrpArgCysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767346" }, { "coordinates": [ { "allele": "T", "end": 145, "referenceAllele": "C", "start": 144 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644447.1:c.145C>T" ], "proteinEffect": { "hgvs": "ENSP00000496282.1:p.Arg49Ter", "hgvsWellDefined": "ENSP00000496282.1:p.Arg49_Ser680delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgAspArgIleProProCysTrpProGlyTrpSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767818" }, { "coordinates": [ { "allele": "T", "end": 1594, "referenceAllele": "C", "start": 1593 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644472.1:c.*153C>T" ], "proteinEffect": { "hgvs": "ENSP00000495378.1:n.*153C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767832" }, { "coordinates": [ { "allele": "T", "end": 1737, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1737, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644484.1:c.1668+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000493558.1:n.1668+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767838" }, { "coordinates": [ { "allele": "T", "end": 1712, "referenceAllele": "C", "start": 1711 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644542.1:c.*1494C>T" ], "proteinEffect": { "hgvs": "ENSP00000495532.1:n.*1494C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767872" }, { "coordinates": [ { "allele": "T", "end": 962, "referenceAllele": "C", "start": 961 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644649.1:c.962C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS767920" }, { "coordinates": [ { "allele": "T", "end": 1885, "referenceAllele": "C", "start": 1884 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644675.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000494567.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000494567.1:p.Arg597_Ser619delinsSerThrValLysAlaLeuValArgGlyGluGlyCysLeuCysAlaSerArgAlaAlaCysLysSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS767931" }, { "coordinates": [ { "allele": "T", "end": 1854, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1854, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644757.1:c.*87+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000495085.1:n.*87+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS767980" }, { "coordinates": [ { "allele": "T", "end": 1823, "referenceAllele": "C", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000644772.1:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000494321.1:p.Arg598Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS767987" }, { "coordinates": [ { "allele": "T", "end": 1074, "referenceAllele": "C", "start": 1073 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645076.1:c.1074C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768157" }, { "coordinates": [ { "allele": "T", "end": 1237, "referenceAllele": "C", "start": 1236 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645744.1:c.*153C>T" ], "proteinEffect": { "hgvs": "ENSP00000494564.1:n.*153C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768524" }, { "coordinates": [ { "allele": "T", "end": 2067, "referenceAllele": "C", "start": 2066 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645760.1:c.2067C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768531" }, { "coordinates": [ { "allele": "T", "end": 1857, "referenceAllele": "C", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000645884.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000495516.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000495516.1:p.Arg597_Pro980delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS768584" }, { "coordinates": [ { "allele": "T", "end": 1737, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1737, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646003.1:c.1668+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000495259.1:n.1668+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768646" }, { "coordinates": [ { "allele": "T", "end": 1634, "referenceAllele": "C", "start": 1633 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646207.1:c.*153C>T" ], "proteinEffect": { "hgvs": "ENSP00000495025.1:n.*153C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768754" }, { "coordinates": [ { "allele": "T", "end": 1825, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1825, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646276.1:c.*87+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000496070.1:n.*87+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS768789" }, { "coordinates": [ { "allele": "T", "end": 881, "endIntronDirection": "-", "endIntronOffset": 2168, "referenceAllele": "C", "start": 881, "startIntronDirection": "-", "startIntronOffset": 2169 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646592.1:c.882-2169C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS768960" }, { "coordinates": [ { "allele": "T", "end": 1857, "referenceAllele": "C", "start": 1856 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646902.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000494101.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000494101.1:p.Arg597_Lys1570delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769127" }, { "coordinates": [ { "allele": "T", "end": 1923, "referenceAllele": "C", "start": 1922 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000646993.1:c.*188C>T" ], "proteinEffect": { "hgvs": "ENSP00000493720.1:n.*188C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769179" }, { "coordinates": [ { "allele": "T", "end": 1763, "referenceAllele": "C", "start": 1762 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647013.1:c.1763C>T" ], "proteinEffect": { "hgvs": "ENSP00000496741.1:n.1763C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769189" }, { "coordinates": [ { "allele": "T", "end": 1739, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1739, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647015.1:c.1671+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000495389.1:n.1671+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769191" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647086.1:c.1789C>T" ], "proteinEffect": { "hgvs": "ENSP00000493677.1:p.Arg597Ter", "hgvsWellDefined": "ENSP00000493677.1:p.Arg597_Glu693delinsSerThrValLysAlaLeuValArgAlaThrLysAsnGluAlaIleProSerProArgGlyCysProMetAspIleArgArgHisProLeuCysLeuSerPheProGlyGlnValSerProThrLeuSerThrAlaProGluProSerGlnProGlnProValLysGlnLeuProProSerAlaGlySerCysSerAspTrpProThrAlaLeuGlyGlySerHisPheGlnAlaLeuGluProHisGlyAspSerAlaThrValProGluAlaLeuProSerTrpGluTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS769226" }, { "coordinates": [ { "allele": "T", "end": 1764, "endIntronDirection": "+", "endIntronOffset": 1365, "referenceAllele": "C", "start": 1764, "startIntronDirection": "+", "startIntronOffset": 1364 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000647158.1:c.1668+1365C>T" ], "proteinEffect": { "hgvs": "ENSP00000495744.1:n.1668+1365C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS769267" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000302539.8:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000303960.4:p.Arg598Ter", "hgvsWellDefined": "ENSP00000303960.4:p.Arg598_Lys1582delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS255198" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000389817.7:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000374467.3:p.Arg598Ter", "hgvsWellDefined": "ENSP00000374467.3:p.Arg598_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS274297" }, { "coordinates": [ { "allele": "T", "end": 581, "referenceAllele": "C", "start": 580 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000526002.1:n.581C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS351932" }, { "coordinates": [ { "allele": "T", "end": 1835, "referenceAllele": "C", "start": 1834 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000527905.5:c.1792C>T" ], "proteinEffect": { "hgvs": "ENSP00000431653.1:p.Arg598Ter", "hgvsWellDefined": "ENSP00000431653.1:p.Arg598_Pro997delinsSerThrValLysAlaLeuValSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysArgArgGlnLeuArgAlaArgArgMetThrThrCysArgProCysCysThrSerValLeuArgSerHisGlyGluProAlaProSerThrCysProProProAlaSerCysSerCysArgCysTrpSerSerHisSerCysSerSerThrTrpSerTrpTrpProSerThrThrGlyTrpProSerGlyProThrAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS353525" }, { "coordinates": [ { "allele": "T", "end": 307, "referenceAllele": "C", "start": 306 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000528202.5:n.307C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS353776" }, { "coordinates": [ { "allele": "T", "end": 1823, "referenceAllele": "C", "start": 1822 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "ENST00000532728.5:n.1823C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS357611" }, { "@id": "http://reg.genome.network/allele/PA2825148027", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.4:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg598Ter", "hgvsWellDefined": "NP_000343.2:p.Arg598_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006415" }, { "@id": "http://reg.genome.network/allele/PA645438504", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.1:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg598Ter", "hgvsWellDefined": "NP_001274103.1:p.Arg598_Lys1582delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS023254" }, { "coordinates": [ { "allele": "T", "end": 1852, "referenceAllele": "C", "start": 1851 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520331.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_011518633.1:p.Arg597Ter", "hgvsWellDefined": "XP_011518633.1:p.Arg597_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087499" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520332.1:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011518634.1:p.Arg598Ter", "hgvsWellDefined": "XP_011518634.1:p.Arg598_His1477delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087500" }, { "coordinates": [ { "allele": "T", "end": 411, "referenceAllele": "C", "start": 410 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520333.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_011518635.1:p.Arg97Ter", "hgvsWellDefined": "XP_011518635.1:p.Arg97_Lys1081delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087501" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_011520334.1:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_011518636.1:p.Arg598Ter", "hgvsWellDefined": "XP_011518636.1:p.Arg598_Pro981delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluValSerGlyAspLysMetProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS087502" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930890.1:n.1855C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127017" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930891.1:n.1855C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127018" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930892.1:n.1855C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127019" }, { "coordinates": [ { "allele": "T", "end": 1855, "referenceAllele": "C", "start": 1854 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_930893.1:n.1855C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS127020" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.1:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg598Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS520088" }, { "@id": "http://reg.genome.network/allele/PA2827604346", "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.1:c.1789C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg597Ter", "hgvsWellDefined": "NP_001338225.1:p.Arg597_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520089" }, { "@id": "http://reg.genome.network/allele/PA2827605570", "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.1:c.1789C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg597Ter", "hgvsWellDefined": "NP_001338226.1:p.Arg597_Lys1580delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS520090" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.1:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS530635" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018197.2:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_016873686.1:p.Arg598Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS570195" }, { "coordinates": [ { "allele": "T", "end": 1860, "referenceAllele": "C", "start": 1859 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018199.1:c.1789C>T" ], "proteinEffect": { "hgvs": "XP_016873688.1:p.Arg597Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS570196" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018201.2:c.1792C>T" ], "proteinEffect": { "hgvs": "XP_016873690.1:p.Arg598Ter", "hgvsWellDefined": "XP_016873690.1:p.Arg598_His1499delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValGluGluGlyLeuProSerLeuHisSerSerGlnProSerGlySerSerProProAsnHisProGlnProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgCysHisHisHisArgArgArgGlyGluPheGlnProGlyThrGluAlaAlaValLeuProGlyProGlyLeuArgGluGluAspGlnHisLeuHisHisGlyArgGlyHisGlyPheHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS570197" }, { "coordinates": [ { "allele": "T", "end": 1656, "referenceAllele": "C", "start": 1655 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018202.1:c.289C>T" ], "proteinEffect": { "hgvs": "XP_016873691.1:p.Arg97Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS570198" }, { "coordinates": [ { "allele": "T", "end": 837, "referenceAllele": "C", "start": 836 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_017018204.1:c.-252C>T" ], "proteinEffect": { "hgvs": "XP_016873693.1:n.-252C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS570199" }, { "coordinates": [ { "allele": "T", "end": 2873, "referenceAllele": "C", "start": 2872 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XM_024448668.1:c.157C>T" ], "proteinEffect": { "hgvs": "XP_024304436.1:p.Arg53Ter", "hgvsWellDefined": "XP_024304436.1:p.Arg53_Lys1037delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS582236" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747945.2:n.1864C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596022" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_001747946.2:n.1864C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS596023" }, { "coordinates": [ { "allele": "T", "end": 1864, "referenceAllele": "C", "start": 1863 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "XR_002957189.1:n.1864C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS603325" }, { "@id": "http://reg.genome.network/allele/PA2825148027", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_000352.6:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_000343.2:p.Arg598Ter", "hgvsWellDefined": "NP_000343.2:p.Arg598_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674803", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000389817.8:c.1792C>T" }, "RefSeq": { "hgvs": "NM_000352.6:c.1792C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000374467.4:p.Arg598Ter" }, "RefSeq": { "hgvs": "NP_000343.2:p.Arg598Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA645438504", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.2:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg598Ter", "hgvsWellDefined": "NP_001274103.1:p.Arg598_Lys1582delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS682368" }, { "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351295.2:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001338224.1:p.Arg598Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS688742" }, { "@id": "http://reg.genome.network/allele/PA2827604346", "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351296.2:c.1789C>T" ], "proteinEffect": { "hgvs": "NP_001338225.1:p.Arg597Ter", "hgvsWellDefined": "NP_001338225.1:p.Arg597_Lys1581delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688743" }, { "@id": "http://reg.genome.network/allele/PA2827605570", "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001351297.2:c.1789C>T" ], "proteinEffect": { "hgvs": "NP_001338226.1:p.Arg597Ter", "hgvsWellDefined": "NP_001338226.1:p.Arg597_Lys1580delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS688744" }, { "coordinates": [ { "allele": "T", "end": 1858, "referenceAllele": "C", "start": 1857 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NR_147094.2:n.1858C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704497" }, { "@id": "http://reg.genome.network/allele/PA645438504", "coordinates": [ { "allele": "T", "end": 1861, "referenceAllele": "C", "start": 1860 } ], "gene": "http://reg.genome.network/gene/GN000059", "geneNCBI_id": 6833, "geneSymbol": "ABCC8", "hgvs": [ "NM_001287174.3:c.1792C>T" ], "proteinEffect": { "hgvs": "NP_001274103.1:p.Arg598Ter", "hgvsWellDefined": "NP_001274103.1:p.Arg598_Lys1582delinsSerThrValLysAlaLeuValSerValGlnLysLeuSerGluPheLeuSerSerAlaGluIleArgGluGluGlnCysAlaProHisGluProThrProGlnGlyProAlaSerLysTyrGlnAlaValProLeuArgValValAsnArgLysArgProAlaArgGluAspCysArgGlyLeuThrGlyProLeuGlnSerLeuValProSerAlaAspGlyAspAlaAspAsnCysCysValGlnIleMetGlyGlyTyrPheThrTrpThrProAspGlyIleProThrLeuSerAsnIleThrIleArgIleProArgGlyGlnLeuThrMetIleValGlyGlnValGlyCysGlyLysSerSerLeuLeuLeuAlaAlaLeuGlyGluMetGlnLysValSerGlyAlaValPheTrpSerSerSerLeuProAspSerGluIleGlyGluAspProSerProGluArgGluThrAlaThrAspLeuAspIleArgLysArgGlyProValAlaTyrAlaSerGlnLysProTrpLeuLeuAsnAlaThrValGluGluAsnIleIlePheGluSerProPheAsnLysGlnArgTyrLysMetValIleGluAlaCysSerLeuGlnProAspIleAspIleLeuProHisGlyAspGlnThrGlnIleGlyGluArgGlyIleAsnLeuSerGlyGlyGlnArgGlnArgIleSerValAlaArgAlaLeuTyrGlnHisAlaAsnValValPheLeuAspAspProPheSerAlaLeuAspIleHisLeuSerAspHisLeuMetGlnAlaGlyIleLeuGluLeuLeuArgAspAspLysArgThrValValLeuValThrHisLysLeuGlnTyrLeuProHisAlaAspTrpIleIleAlaMetLysAspGlyThrIleGlnArgGluGlyThrLeuLysAspPheGlnArgSerGluCysGlnLeuPheGluHisTrpLysThrLeuMetAsnArgGlnAspGlnGluLeuGluLysGluThrValThrGluArgLysAlaThrGluProProGlnGlyLeuSerArgAlaMetSerSerArgAspGlyLeuLeuGlnAspGluGluGluGluGluGluGluAlaAlaGluSerGluGluAspAspAsnLeuSerSerMetLeuHisGlnArgAlaGluIleProTrpArgAlaCysAlaLysTyrLeuSerSerAlaGlyIleLeuLeuLeuSerLeuLeuValPheSerGlnLeuLeuLysHisMetValLeuValAlaIleAspTyrTrpLeuAlaLysTrpThrAspSerAlaLeuThrLeuThrProAlaAlaArgAsnCysSerLeuSerGlnGluCysThrLeuAspGlnThrValTyrAlaMetValPheThrValLeuCysSerLeuGlyIleValLeuCysLeuValThrSerValThrValGluTrpThrGlyLeuLysValAlaLysArgLeuHisArgSerLeuLeuAsnArgIleIleLeuAlaProMetArgPhePheGluThrThrProLeuGlySerIleLeuAsnArgPheSerSerAspCysAsnThrIleAspGlnHisIleProSerThrLeuGluCysLeuSerArgSerThrLeuLeuCysValSerAlaLeuAlaValIleSerTyrValThrProValPheLeuValAlaLeuLeuProLeuAlaIleValCysTyrPheIleGlnLysTyrPheArgValAlaSerArgAspLeuGlnGlnLeuAspAspThrThrGlnLeuProLeuLeuSerHisPheAlaGluThrValGluGlyLeuThrThrIleArgAlaPheArgTyrGluAlaArgPheGlnGlnLysLeuLeuGluTyrThrAspSerAsnAsnIleAlaSerLeuPheLeuThrAlaAlaAsnArgTrpLeuGluValArgMetGluTyrIleGlyAlaCysValValLeuIleAlaAlaValThrSerIleSerAsnSerLeuHisArgGluLeuSerAlaGlyLeuValGlyLeuGlyLeuThrTyrAlaLeuMetValSerAsnTyrLeuAsnTrpMetValArgAsnLeuAlaAspMetGluLeuGlnLeuGlyAlaValLysArgIleHisGlyLeuLeuLysThrGluAlaGluSerTyrGluGlyLeuLeuAlaProSerLeuIleProLysAsnTrpProAspGlnGlyLysIleGlnIleGlnAsnLeuSerValArgTyrAspSerSerLeuLysProValLeuLysHisValAsnAlaLeuIleAlaProGlyGlnLysIleGlyIleCysGlyArgThrGlySerGlyLysSerSerPheSerLeuAlaPhePheArgMetValAspThrPheGluGlyHisIleIleIleAspGlyIleAspIleAlaLysLeuProLeuHisThrLeuArgSerArgLeuSerIleIleLeuGlnAspProValLeuPheSerGlyThrIleArgPheAsnLeuAspProGluArgLysCysSerAspSerThrLeuTrpGluAlaLeuGluIleAlaGlnLeuLysLeuValValLysAlaLeuProGlyGlyLeuAspAlaIleIleThrGluGlyGlyGluAsnPheSerGlnGlyGlnArgGlnLeuPheCysLeuAlaArgAlaPheValArgLysThrSerIlePheIleMetAspGluAlaThrAlaSerIleAspMetAlaThrGluAsnIleLeuGlnLysValValMetThrAlaPheAlaAspArgThrValValThrIleAlaHisArgValHisThrIleLeuSerAlaAspLeuValIleValLeuLysArgGlyAlaIleLeuGluPheAspLysProGluLysLeuLeuSerArgLysAspSerValPheAlaSerPheValArgAlaAspLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS716342" } ], "type": "nucleotide" }