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}, "referenceSequence": "http://reg.genome.network/refseq/RS034119" }, { "coordinates": [ { "allele": "A", "end": 782, "referenceAllele": "G", "start": 781 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_005250257.1:c.620G>A" ], "proteinEffect": { "hgvs": "XP_005250314.1:p.Trp207Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS059129" }, { "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516010.1:c.1994G>A" ], "proteinEffect": { "hgvs": "XP_011514312.1:p.Trp665Ter", "hgvsWellDefined": 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}, "referenceSequence": "http://reg.genome.network/refseq/RS083217" }, { "coordinates": [ { "allele": "A", "end": 3170, "referenceAllele": "G", "start": 3169 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_011516011.1:c.1991G>A" ], "proteinEffect": { "hgvs": "XP_011514313.1:p.Trp664Ter", "hgvsWellDefined": "XP_011514313.1:p.Trp664_Arg1265delinsGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnSerMetPheGlyHisLysAspGlyProSerValGlnAsnPheSerAsnProHisGluProTrpAsnArgLeuHisArgThrProProSerPheProThrProProProTrpLeuLysProGlyGluLeuGluArgSerAlaSerAlaAlaAlaHisAspArgAspArgAspValAspLysArgAspSerSerValSerLysAspAspLysGluArgGluSerValGluLysArgHisSerSerHisProSerProAlaProValLeuProValAsnAlaLeuGlyHisThrArgSerSerThrGluGlnIleArgAlaHisLeuAsnThrGluAlaArgGluLysAspLysProLysGluArgGluArgAspHisSerGluSerArgLysAspLeuAlaAlaAspGluHisLysAlaLysGluGlyHisLeuProGluLysAspGlyHisGlyHisGluGlyArgAlaAlaGlyGluGluAlaLysGlnLeuAlaArgValProSerProTyrValArgThrProValValGluSerAlaArgProAsnSerThrSerSerArgGluAlaGluProArgLysGlyGluProAlaTyrGluAsnProLysLysSerSerGluValLysValLysGluGluArgLysGluAspHisAspLeuProProGluAlaProGlnThrHisArgAlaSerGluProProProProAsnSerSerSerSerValHisProGlyProLeuAlaSerMetProMetThrValGlyValThrGlyIleHisProMetAsnSerIleSerSerLeuAspArgThrArgMetMetThrProPheMetGlyIleSerProLeuProGlyGlyGluArgPheProTyrProSerPheHisTrpAspProIleArgAspProLeuArgAspProTyrArgGluLeuAspIleHisArgArgAspProLeuGlyArgAspPheLeuLeuArgAsnAspProLeuHisArgLeuSerThrProArgLeuTyrGluAlaAspArgSerPheArgAspArgGluProHisAspTyrSerHisHisHisHisHisHisHisHisProLeuSerValAspProArgArgGluHisGluArgGlyGlyHisLeuAspGluArgGluArgLeuHisMetLeuArgGluAspTyrGluHisThrArgLeuHisSerValHisProAlaSerLeuAspGlyHisLeuProHisProSerLeuIleThrProGlyLeuProSerMetHisTyrProArgIleSerProThrAlaGlyAsnGlnAsnGlyLeuLeuAsnLysThrProProThrAlaAlaLeuSerAlaProProProLeuIleSerThrLeuGlyGlyArgProValSerProArgArgThrThrProLeuSerAlaGluIleArgGluArgProProSerHisThrLeuLysAspIleGluAlaArgTer" 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}, "referenceSequence": "http://reg.genome.network/refseq/RS543988" }, { "coordinates": [ { "allele": "A", "end": 3173, "referenceAllele": "G", "start": 3172 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "XM_017011951.2:c.1994G>A" ], "proteinEffect": { "hgvs": "XP_016867440.1:p.Trp665Ter", "hgvsWellDefined": "XP_016867440.1:p.Trp665_Phe784delinsGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnAsnMetTyrSerPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS565677" }, { "@id": "http://reg.genome.network/allele/PA2825600227", "coordinates": [ { "allele": "A", "end": 3080, "referenceAllele": "G", "start": 3079 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "NM_001127231.3:c.1901G>A" ], "proteinEffect": { "hgvs": "NP_001120703.1:p.Trp634Ter", "hgvsWellDefined": "NP_001120703.1:p.Trp634_Arg1235delinsGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnSerMetPheGlyHisLysAspGlyProSerValGlnAsnPheSerAsnProHisGluProTrpAsnArgLeuHisArgThrProProSerPheProThrProProProTrpLeuLysProGlyGluLeuGluArgSerAlaSerAlaAlaAlaHisAspArgAspArgAspValAspLysArgAspSerSerValSerLysAspAspLysGluArgGluSerValGluLysArgHisSerSerHisProSerProAlaProValLeuProValAsnAlaLeuGlyHisThrArgSerSerThrGluGlnIleArgAlaHisLeuAsnThrGluAlaArgGluLysAspLysProLysGluArgGluArgAspHisSerGluSerArgLysAspLeuAlaAlaAspGluHisLysAlaLysGluGlyHisLeuProGluLysAspGlyHisGlyHisGluGlyArgAlaAlaGlyGluGluAlaLysGlnLeuAlaArgValProSerProTyrValArgThrProValValGluSerAlaArgProAsnSerThrSerSerArgGluAlaGluProArgLysGlyGluProAlaTyrGluAsnProLysLysSerSerGluValLysValLysGluGluArgLysGluAspHisAspLeuProProGluAlaProGlnThrHisArgAlaSerGluProProProProAsnSerSerSerSerValHisProGlyProLeuAlaSerMetProMetThrValGlyValThrGlyIleHisProMetAsnSerIleSerSerLeuAspArgThrArgMetMetThrProPheMetGlyIleSerProLeuProGlyGlyGluArgPheProTyrProSerPheHisTrpAspProIleArgAspProLeuArgAspProTyrArgGluLeuAspIleHisArgArgAspProLeuGlyArgAspPheLeuLeuArgAsnAspProLeuHisArgLeuSerThrProArgLeuTyrGluAlaAspArgSerPheArgAspArgGluProHisAspTyrSerHisHisHisHisHisHisHisHisProLeuSerValAspProArgArgGluHisGluArgGlyGlyHisLeuAspGluArgGluArgLeuHisMetLeuArgGluAspTyrGluHisThrArgLeuHisSerValHisProAlaSerLeuAspGlyHisLeuProHisProSerLeuIleThrProGlyLeuProSerMetHisTyrProArgIleSerProThrAlaGlyAsnGlnAsnGlyLeuLeuAsnLysThrProProThrAlaAlaLeuSerAlaProProProLeuIleSerThrLeuGlyGlyArgProValSerProArgArgThrThrProLeuSerAlaGluIleArgGluArgProProSerHisThrLeuLysAspIleGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS676859" }, { "@id": "http://reg.genome.network/allele/PA645408061", "coordinates": [ { "allele": "A", "end": 3152, "referenceAllele": "G", "start": 3151 } ], "gene": "http://reg.genome.network/gene/GN014262", "geneNCBI_id": 26053, "geneSymbol": "AUTS2", "hgvs": [ "NM_015570.4:c.1973G>A" ], "proteinEffect": { "hgvs": "NP_056385.1:p.Trp658Ter", "hgvsWellDefined": "NP_056385.1:p.Trp658_Arg1259delinsGlnIleTyrHisHisGlnGlnLysValLysLysGlnMetGlnSerAspProHisLysLeuAspPheGlyLeuLysProGluPheLeuSerArgProProGlyProSerLeuPheGlyAlaIleHisHisProHisAspLeuAlaArgProSerThrLeuPheSerAlaAlaGlyAlaAlaHisProThrGlyThrProPheGlyProProProHisHisSerAsnPheLeuAsnProAlaAlaHisLeuGluProPheAsnArgProSerThrPheThrGlyLeuAlaAlaValGlyGlyAsnAlaPheGlyGlyLeuGlyAsnProSerValThrProAsnSerMetPheGlyHisLysAspGlyProSerValGlnAsnPheSerAsnProHisGluProTrpAsnArgLeuHisArgThrProProSerPheProThrProProProTrpLeuLysProGlyGluLeuGluArgSerAlaSerAlaAlaAlaHisAspArgAspArgAspValAspLysArgAspSerSerValSerLysAspAspLysGluArgGluSerValGluLysArgHisSerSerHisProSerProAlaProValLeuProValAsnAlaLeuGlyHisThrArgSerSerThrGluGlnIleArgAlaHisLeuAsnThrGluAlaArgGluLysAspLysProLysGluArgGluArgAspHisSerGluSerArgLysAspLeuAlaAlaAspGluHisLysAlaLysGluGlyHisLeuProGluLysAspGlyHisGlyHisGluGlyArgAlaAlaGlyGluGluAlaLysGlnLeuAlaArgValProSerProTyrValArgThrProValValGluSerAlaArgProAsnSerThrSerSerArgGluAlaGluProArgLysGlyGluProAlaTyrGluAsnProLysLysSerSerGluValLysValLysGluGluArgLysGluAspHisAspLeuProProGluAlaProGlnThrHisArgAlaSerGluProProProProAsnSerSerSerSerValHisProGlyProLeuAlaSerMetProMetThrValGlyValThrGlyIleHisProMetAsnSerIleSerSerLeuAspArgThrArgMetMetThrProPheMetGlyIleSerProLeuProGlyGlyGluArgPheProTyrProSerPheHisTrpAspProIleArgAspProLeuArgAspProTyrArgGluLeuAspIleHisArgArgAspProLeuGlyArgAspPheLeuLeuArgAsnAspProLeuHisArgLeuSerThrProArgLeuTyrGluAlaAspArgSerPheArgAspArgGluProHisAspTyrSerHisHisHisHisHisHisHisHisProLeuSerValAspProArgArgGluHisGluArgGlyGlyHisLeuAspGluArgGluArgLeuHisMetLeuArgGluAspTyrGluHisThrArgLeuHisSerValHisProAlaSerLeuAspGlyHisLeuProHisProSerLeuIleThrProGlyLeuProSerMetHisTyrProArgIleSerProThrAlaGlyAsnGlnAsnGlyLeuLeuAsnLysThrProProThrAlaAlaLeuSerAlaProProProLeuIleSerThrLeuGlyGlyArgProValSerProArgArgThrThrProLeuSerAlaGluIleArgGluArgProProSerHisThrLeuLysAspIleGluAlaArgTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS697572", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000342771.10:c.1973G>A" }, "RefSeq": { "hgvs": "NM_015570.4:c.1973G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000344087.4:p.Trp658Ter" }, "RefSeq": { "hgvs": "NP_056385.1:p.Trp658Ter" } } } } ], "type": "nucleotide" }