{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393497344", "communityStandardTitle": [ "NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=3393190[alleleid]", "alleleId": 3393190, "preferredName": "NM_001145358.2(SIN3A):c.1810C>T (p.Gln604Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/3234067", "RCV": [ "RCV004545920" ], "variationId": 3234067 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75692425G>A?assembly=hg19", "id": "chr15:g.75692425G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75400084G>A?assembly=hg38", "id": "chr15:g.75400084G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/2542629795", "rs": 2542629795 } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75400084, "referenceAllele": "G", "start": 75400083 } ], "hgvs": [ "NC_000015.10:g.75400084G>A", "CM000677.2:g.75400084G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75692425, "referenceAllele": "G", "start": 75692424 } ], "hgvs": [ "NC_000015.9:g.75692425G>A", "CM000677.1:g.75692425G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 73479478, "referenceAllele": "G", "start": 73479477 } ], "hgvs": [ "NC_000015.8:g.73479478G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 60700, "referenceAllele": "C", "start": 60699 } ], "hgvs": [ "NG_052855.1:g.60700C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617222" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 1898, "referenceAllele": "C", "start": 1897 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000564778.6:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000455204.2:p.Gln604Ter", "hgvsWellDefined": "ENSP00000455204.2:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905944" }, { "coordinates": [ { "allele": "T", "end": 2265, "referenceAllele": "C", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000565264.2:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000454296.2:p.Gln604Ter", "hgvsWellDefined": "ENSP00000454296.2:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS905948" }, { "coordinates": [ { "allele": "T", "end": 1132, "referenceAllele": "C", "start": 1131 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704302.1:c.1132C>T" ], "proteinEffect": { "hgvs": "ENSP00000515826.1:p.Gln378Ter", "hgvsWellDefined": "ENSP00000515826.1:p.Gln378_Ile922delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProSerGluThrThrGluHisLeuCysMetTyrLeuThrAsnTrpAspGluTyrTyrAlaSerIleTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912227" }, { "coordinates": [ { "allele": "T", "end": 2169, "referenceAllele": "C", "start": 2168 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704304.1:c.*1764C>T" ], "proteinEffect": { "hgvs": "ENSP00000515828.1:n.*1764C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912229" }, { "coordinates": [ { "allele": "T", "end": 1920, "referenceAllele": "C", "start": 1919 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704305.1:c.1920C>T" ], "proteinEffect": { "hgvs": "ENSP00000515829.1:n.1920C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912230" }, { "coordinates": [ { "allele": "T", "end": 1810, "referenceAllele": "C", "start": 1809 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704310.1:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000515832.1:p.Gln604Ter", "hgvsWellDefined": "ENSP00000515832.1:p.Gln604_Pro1278delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysValSerTyrLeuGlnLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912233" }, { "coordinates": [ { "allele": "T", "end": 590, "referenceAllele": "C", "start": 589 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704311.1:c.590C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS912234" }, { "coordinates": [ { "allele": "T", "end": 2160, "referenceAllele": "C", "start": 2159 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704312.1:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000515834.1:p.Gln604Ter", "hgvsWellDefined": "ENSP00000515834.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912235" }, { "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.8:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Gln604Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.1810C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.1810C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Gln604Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Gln604Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000360439.8:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000353622.4:p.Gln604Ter", "hgvsWellDefined": "ENSP00000353622.4:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265129" }, { "coordinates": [ { "allele": "T", "end": 2125, "referenceAllele": "C", "start": 2124 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.7:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Gln604Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276436" }, { "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "C", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394949.8:c.1810C>T" ], "proteinEffect": { "hgvs": "ENSP00000378403.4:p.Gln604Ter", "hgvsWellDefined": "ENSP00000378403.4:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276437" }, { "@id": "http://reg.genome.network/allele/PA2825889718", "coordinates": [ { "allele": "T", "end": 1992, "referenceAllele": "C", "start": 1991 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.1:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Gln604Ter", "hgvsWellDefined": "NP_001138829.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013611" }, { "@id": "http://reg.genome.network/allele/PA2825890089", "coordinates": [ { "allele": "T", "end": 2167, "referenceAllele": "C", "start": 2166 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.1:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Gln604Ter", "hgvsWellDefined": "NP_001138830.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013612" }, { "@id": "http://reg.genome.network/allele/PA2829828362", "coordinates": [ { "allele": "T", "end": 2069, "referenceAllele": "C", "start": 2068 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.2:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Gln604Ter", "hgvsWellDefined": "NP_056292.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034051" }, { "coordinates": [ { "allele": "T", "end": 1871, "referenceAllele": "C", "start": 1870 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.2:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Gln604Ter", "hgvsWellDefined": "XP_006720528.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073676" }, { "coordinates": [ { "allele": "T", "end": 2265, "referenceAllele": "C", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.2:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Gln604Ter", "hgvsWellDefined": "XP_006720529.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073677" }, { "coordinates": [ { "allele": "T", "end": 2055, "referenceAllele": "C", "start": 2054 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.2:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Gln604Ter", "hgvsWellDefined": "XP_006720530.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073678" }, { "coordinates": [ { "allele": "T", "end": 1875, "referenceAllele": "C", "start": 1874 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.3:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Gln604Ter", "hgvsWellDefined": "XP_006720528.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540104" }, { "coordinates": [ { "allele": "T", "end": 2265, "referenceAllele": "C", "start": 2264 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.3:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Gln604Ter", "hgvsWellDefined": "XP_006720529.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540105" }, { "coordinates": [ { "allele": "T", "end": 2083, "referenceAllele": "C", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.3:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Gln604Ter", "hgvsWellDefined": "XP_006720530.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "T", "end": 2006, "referenceAllele": "C", "start": 2005 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.1810C>T" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Gln604Ter", "hgvsWellDefined": "XP_024305664.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889718", "coordinates": [ { "allele": "T", "end": 2024, "referenceAllele": "C", "start": 2023 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Gln604Ter", "hgvsWellDefined": "NP_001138829.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677870" }, { "@id": "http://reg.genome.network/allele/PA2825890089", "coordinates": [ { "allele": "T", "end": 2111, "referenceAllele": "C", "start": 2110 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Gln604Ter", "hgvsWellDefined": "NP_001138830.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.1810C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.1810C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Gln604Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Gln604Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2829828362", "coordinates": [ { "allele": "T", "end": 2174, "referenceAllele": "C", "start": 2173 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.1810C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Gln604Ter", "hgvsWellDefined": "NP_056292.1:p.Gln604_Pro1273delinsTyrGluGluHisIleTyrArgCysGluAspGluArgPheGluLeuAspValValLeuGluThrAsnLeuAlaThrIleArgValLeuGluAlaIleGlnLysLysLeuSerArgLeuSerAlaGluGluGlnAlaLysPheArgLeuAspAsnThrLeuGlyGlyThrSerGluValIleHisArgLysAlaLeuGlnArgIleTyrAlaAspLysAlaAlaAspIleIleAspGlyLeuArgLysAsnProSerIleAlaValProIleValLeuLysArgLeuLysMetLysGluGluGluTrpArgGluAlaGlnArgGlyPheAsnLysValTrpArgGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }