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"http://reg.genome.network/refseq/RS277057" }, { "coordinates": [ { "allele": "T", "end": 2937, "referenceAllele": "C", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396044.7:c.1822C>T" ], "proteinEffect": { "hgvs": "ENSP00000379359.3:p.Arg608Ter", "hgvsWellDefined": "ENSP00000379359.3:p.Arg609_Phe734delinsLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProAspCysGluArgAlaAlaSerValHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277058" }, { "coordinates": [ { "allele": "T", "end": 2149, "referenceAllele": "C", "start": 2148 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 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"http://reg.genome.network/refseq/RS343620" }, { "coordinates": [ { "allele": "T", "end": 2430, "referenceAllele": "C", "start": 2429 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612010.4:c.*174C>T" ], "proteinEffect": { "hgvs": "ENSP00000482407.1:n.*174C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401116" }, { "coordinates": [ { "allele": "T", "end": 2937, "referenceAllele": "C", "start": 2936 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612452.4:c.1252C>T" ], "proteinEffect": { "hgvs": "ENSP00000484033.1:p.Arg418Ter", "hgvsWellDefined": "ENSP00000484033.1:p.Arg419_Gln737delinsLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleLysAlaAsnLeuPheAlaArgIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" 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"http://reg.genome.network/refseq/RS008239" }, { "@id": "http://reg.genome.network/allele/PA645451382", "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.4:c.1822C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Arg608Ter", "hgvsWellDefined": 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"http://reg.genome.network/refseq/RS510743" }, { "@id": "http://reg.genome.network/allele/PA915956332", "coordinates": [ { "allele": "T", "end": 2533, "referenceAllele": "C", "start": 2532 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001011645.3:c.226C>T" ], "proteinEffect": { "hgvs": "NP_001011645.1:p.Arg76Ter", "hgvsWellDefined": "NP_001011645.1:p.Arg77_Gln388delinsLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511003" }, { "@id": "http://reg.genome.network/allele/PA2827427166", "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348061.1:c.1822C>T" ], "proteinEffect": { "hgvs": "NP_001334990.1:p.Arg608Ter", "hgvsWellDefined": "NP_001334990.1:p.Arg609_Pro644delinsLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517980" }, { "@id": "http://reg.genome.network/allele/PA2827427524", "coordinates": [ { "allele": "T", "end": 2346, "referenceAllele": "C", "start": 2345 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348063.1:c.1822C>T" ], "proteinEffect": { "hgvs": "NP_001334992.1:p.Arg608Ter", "hgvsWellDefined": "NP_001334992.1:p.Arg609_Pro648delinsLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaAlaValValValSerGluArgIleLeuArgValPheGlyValSerGluTrpLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517981" }, { "coordinates": [ { "allele": "T", "end": 2263, "referenceAllele": "C", "start": 2262 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348064.1:c.*20C>T" ], "proteinEffect": { "hgvs": "NP_001334993.1:n.*20C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517982" }, { "@id": "http://reg.genome.network/allele/PA645451382", "coordinates": [ { "allele": "T", "end": 2948, "referenceAllele": "C", "start": 2947 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.6:c.1822C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Arg608Ter", "hgvsWellDefined": "NP_000035.2:p.Arg609_Gln920delinsLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674674", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374690.9:c.1822C>T" }, "RefSeq": { "hgvs": "NM_000044.6:c.1822C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363822.3:p.Arg608Ter" }, "RefSeq": { "hgvs": "NP_000035.2:p.Arg608Ter" } } } } ], "type": "nucleotide" }