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"XP_006720530.1:p.Gln1009_Pro1273delinsHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS540106" }, { "coordinates": [ { "allele": "T", "end": 3221, "referenceAllele": "C", "start": 3220 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "XM_024449896.1:c.3025C>T" ], "proteinEffect": { "hgvs": "XP_024305664.1:p.Gln1009Ter", "hgvsWellDefined": "XP_024305664.1:p.Gln1009_Pro1273delinsHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS583438" }, { "@id": "http://reg.genome.network/allele/PA2825889831", "coordinates": [ { "allele": "T", "end": 3239, "referenceAllele": "C", "start": 3238 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145357.2:c.3025C>T" ], "proteinEffect": { "hgvs": "NP_001138829.1:p.Gln1009Ter", "hgvsWellDefined": 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"end": 3326, "referenceAllele": "C", "start": 3325 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_001145358.2:c.3025C>T" ], "proteinEffect": { "hgvs": "NP_001138830.1:p.Gln1009Ter", "hgvsWellDefined": "NP_001138830.1:p.Gln1009_Pro1273delinsHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS677871", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000394947.8:c.3025C>T" }, "RefSeq": { "hgvs": "NM_001145358.2:c.3025C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000378402.3:p.Gln1009Ter" }, "RefSeq": { "hgvs": "NP_001138830.1:p.Gln1009Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA2580397241", "coordinates": [ { "allele": "T", "end": 3389, "referenceAllele": "C", "start": 3388 } ], "gene": "http://reg.genome.network/gene/GN019353", "geneNCBI_id": 25942, "geneSymbol": "SIN3A", "hgvs": [ "NM_015477.3:c.3025C>T" ], "proteinEffect": { "hgvs": "NP_056292.1:p.Gln1009Ter", "hgvsWellDefined": "NP_056292.1:p.Gln1009_Pro1273delinsHisIleValSerAspGluIleCysValGlnValThrAspLeuTyrLeuAlaGluAsnAsnAsnGlyAlaThrGlyGlyGlnLeuAsnThrGlnAsnSerArgSerLeuLeuGluSerThrTyrGlnArgLysAlaGluGlnLeuMetSerAspGluAsnCysPheLysLeuMetPheIleGlnSerGlnGlyGlnValGlnLeuThrIleGluLeuLeuAspThrGluGluGluAsnSerAspAspProValGluAlaGluArgTrpSerAspTyrValGluArgTyrMetAsnSerAspThrThrSerProGluLeuArgGluHisLeuAlaGlnLysProValPheLeuProArgAsnLeuArgArgIleArgLysCysGlnArgGlyArgGluGlnGlnGluLysGluGlyLysGluGlyAsnSerLysLysThrMetGluAsnValAspSerLeuAspLysLeuGluCysArgPheLysLeuAsnSerTyrLysMetValTyrValIleLysSerGluAspTyrMetTyrArgArgThrAlaLeuLeuArgAlaHisGlnSerHisGluArgValSerLysArgLeuHisGlnArgPheGlnAlaTrpValAspLysTrpThrLysGluHisValProArgGluMetAlaAlaGluThrSerLysTrpLeuMetGlyGluGlyLeuGluGlyLeuValProCysThrThrThrCysAspThrGluThrLeuHisPheValSerIleAsnLysTyrArgValLysTyrGlyThrValPheLysAlaProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697553" } ], "type": "nucleotide" }