{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA393494606", "communityStandardTitle": [ "NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)" ], "externalRecords": { "COSMIC": [ { "@id": "http://cancer.sanger.ac.uk/cosmic/mutation/overview?id=4726112", "active": true, "id": "COSM4726112" } ], "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=1322371[alleleid]", "alleleId": 1322371, "preferredName": "NM_001145358.2(SIN3A):c.2152C>T (p.Arg718Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/1331651", "RCV": [ "RCV001806995", "RCV003493875" ], "variationId": 1331651 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75687146G>A?assembly=hg19", "id": "chr15:g.75687146G>A" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr15:g.75394805G>A?assembly=hg38", "id": "chr15:g.75394805G>A" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1444395453", "rs": 1444395453 } ], "gnomAD_2": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-75687146-G-A?dataset=gnomad_r2_1", "id": "15-75687146-G-A", "variant": "15:75687146 G / A" } ], "gnomAD_4": [ { "@id": "http://gnomad.broadinstitute.org/variant/15-75394805-G-A?dataset=gnomad_r4", "id": "15-75394805-G-A", "variant": "15:75394805 G / A" } ] }, "genomicAlleles": [ { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75394805, "referenceAllele": "G", "start": 75394804 } ], "hgvs": [ "NC_000015.10:g.75394805G>A", "CM000677.2:g.75394805G>A" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000063" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 75687146, "referenceAllele": "G", "start": 75687145 } ], "hgvs": [ "NC_000015.9:g.75687146G>A", "CM000677.1:g.75687146G>A" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000039" }, { "chromosome": "15", "coordinates": [ { "allele": "A", "end": 73474199, "referenceAllele": "G", "start": 73474198 } ], "hgvs": [ "NC_000015.8:g.73474199G>A" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000015" }, { "coordinates": [ { "allele": "T", "end": 65979, "referenceAllele": "C", "start": 65978 } ], "hgvs": [ "NG_052855.1:g.65979C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS617222" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 2240, "referenceAllele": "C", "start": 2239 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000564778.6:c.2152C>T" ], "proteinEffect": { "hgvs": "ENSP00000455204.2:p.Arg718Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS905948" }, { "coordinates": [ { "allele": "T", "end": 1474, "referenceAllele": "C", "start": 1473 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704302.1:c.1474C>T" ], "proteinEffect": { "hgvs": "ENSP00000515826.1:p.Arg492Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS912227" }, { "coordinates": [ { "allele": "T", "end": 2511, "referenceAllele": "C", "start": 2510 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704304.1:c.*2106C>T" ], "proteinEffect": { "hgvs": "ENSP00000515828.1:n.*2106C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912229" }, { "coordinates": [ { "allele": "T", "end": 2262, "referenceAllele": "C", "start": 2261 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704305.1:c.2262C>T" ], "proteinEffect": { "hgvs": "ENSP00000515829.1:n.2262C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS912230" }, { "coordinates": [ { "allele": "T", "end": 2152, "referenceAllele": "C", "start": 2151 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ 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}, "referenceSequence": "http://reg.genome.network/refseq/RS912233" }, { "coordinates": [ { "allele": "T", "end": 1049, "referenceAllele": "C", "start": 1048 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704311.1:c.1049C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS912234" }, { "coordinates": [ { "allele": "T", "end": 2502, "referenceAllele": "C", "start": 2501 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000704312.1:c.2152C>T" ], "proteinEffect": { "hgvs": "ENSP00000515834.1:p.Arg718Ter", "hgvsWellDefined": "ENSP00000515834.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS912235" }, { "coordinates": [ { "allele": "T", "end": 2453, "referenceAllele": "C", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.8:c.2152C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Arg718Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753335", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.2152C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.2152C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Arg718Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Arg718Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000360439.8:c.2152C>T" ], "proteinEffect": { "hgvs": "ENSP00000353622.4:p.Arg718Ter", "hgvsWellDefined": "ENSP00000353622.4:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS265129" }, { "coordinates": [ { "allele": "T", "end": 2467, "referenceAllele": "C", "start": 2466 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394947.7:c.2152C>T" ], "proteinEffect": { "hgvs": "ENSP00000378402.3:p.Arg718Ter", "hgvsWellDefined": "ENSP00000378402.3:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276436" }, { "coordinates": [ { "allele": "T", "end": 2411, "referenceAllele": "C", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "ENST00000394949.8:c.2152C>T" ], "proteinEffect": { "hgvs": "ENSP00000378403.4:p.Arg718Ter", "hgvsWellDefined": "ENSP00000378403.4:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS276437" }, { "@id": "http://reg.genome.network/allele/PA2825889754", "coordinates": [ { "allele": "T", "end": 2334, "referenceAllele": "C", "start": 2333 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.1:c.2152C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Arg718Ter", "hgvsWellDefined": "NP_001138829.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013611" }, { "@id": "http://reg.genome.network/allele/PA2825890121", "coordinates": [ { "allele": "T", "end": 2509, "referenceAllele": "C", "start": 2508 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.1:c.2152C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Arg718Ter", "hgvsWellDefined": "NP_001138830.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS013612" }, { "@id": "http://reg.genome.network/allele/PA2573091968", "coordinates": [ { "allele": "T", "end": 2411, "referenceAllele": "C", "start": 2410 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.2:c.2152C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Arg718Ter", "hgvsWellDefined": "NP_056292.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS034051" }, { "coordinates": [ { "allele": "T", "end": 2213, "referenceAllele": "C", "start": 2212 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.2:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Arg718Ter", "hgvsWellDefined": "XP_006720528.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073676" }, { "coordinates": [ { "allele": "T", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.2:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Arg718Ter", "hgvsWellDefined": "XP_006720529.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073677" }, { "coordinates": [ { "allele": "T", "end": 2397, "referenceAllele": "C", "start": 2396 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.2:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Arg718Ter", "hgvsWellDefined": "XP_006720530.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS073678" }, { "coordinates": [ { "allele": "T", "end": 2217, "referenceAllele": "C", "start": 2216 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720465.3:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_006720528.1:p.Arg718Ter", "hgvsWellDefined": "XP_006720528.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540104" }, { "coordinates": [ { "allele": "T", "end": 2607, "referenceAllele": "C", "start": 2606 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720466.3:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_006720529.1:p.Arg718Ter", "hgvsWellDefined": "XP_006720529.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540105" }, { "coordinates": [ { "allele": "T", "end": 2425, "referenceAllele": "C", "start": 2424 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_006720467.3:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_006720530.1:p.Arg718Ter", "hgvsWellDefined": "XP_006720530.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "T", "end": 2348, "referenceAllele": "C", "start": 2347 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.2152C>T" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Arg718Ter", "hgvsWellDefined": "XP_024305664.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889754", "coordinates": [ { "allele": "T", "end": 2366, "referenceAllele": "C", "start": 2365 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.2152C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Arg718Ter", "hgvsWellDefined": "NP_001138829.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677870" }, { "@id": "http://reg.genome.network/allele/PA2825890121", "coordinates": [ { "allele": "T", "end": 2453, "referenceAllele": "C", "start": 2452 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.2152C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Arg718Ter", "hgvsWellDefined": "NP_001138830.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.2152C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.2152C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Arg718Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Arg718Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2573091968", "coordinates": [ { "allele": "T", "end": 2516, "referenceAllele": "C", "start": 2515 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.2152C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Arg718Ter", "hgvsWellDefined": "NP_056292.1:p.Arg718_Pro1273delinsGluGlnAsnGluLysTyrTyrLeuLysSerLeuAspHisGlnGlyIleAsnPheLysGlnAsnAspThrLysValLeuArgSerLysSerLeuLeuAsnGluIleGluSerIleTyrAspGluArgGlnGluGlnAlaThrGluGluAsnAlaGlyValProValGlyProHisLeuSerLeuAlaTyrGluAspLysGlnIleLeuGluAspAlaAlaAlaLeuIleIleHisHisValLysArgGlnThrGlyIleGlnLysGluAspLysTyrLysIleLysGlnIleMetHisHisPheIleProAspLeuLeuPheAlaGlnArgGlyAspLeuSerAspValGluGluGluGluGluGluGluMetAspValAspGluAlaThrGlyAlaValLysLysHisAsnGlyValGlyGlySerProProLysSerLysLeuLeuPheSerAsnThrAlaAlaGlnLysLeuArgGlyMetAspGluValTyrAsnLeuPheTyrValAsnAsnAsnTrpTyrIlePheMetArgLeuHisGlnIleLeuCysLeuArgLeuLeuArgIleCysSerGlnAlaGluArgGlnIleGluGluGluAsnArgGluArgGluTrpGluArgGluValLeuGlyIleLysArgAspLysSerAspSerProAlaIleGlnLeuArgLeuLysGluProMetAspValAspValGluAspTyrTyrProAlaPheLeuAspMetValArgSerLeuLeuAspGlyAsnIleAspSerSerGlnTyrGluAspSerLeuArgGluMetPheThrIleHisAlaTyrIleAlaPheThrMetAspLysLeuIleGlnSerIleValArgGlnLeuGlnHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }