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}, "referenceSequence": "http://reg.genome.network/refseq/RS270362" }, { "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396044.7:c.1477C>T" ], "proteinEffect": { "hgvs": "ENSP00000379359.3:p.Gln493Ter", "hgvsWellDefined": "ENSP00000379359.3:p.Gln493_Phe734delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProAspCysGluArgAlaAlaSerValHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277058" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000504326.5:c.1477C>T" ], "proteinEffect": { "hgvs": "ENSP00000421155.1:p.Gln493Ter", "hgvsWellDefined": "ENSP00000421155.1:p.Gln493_Pro644delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336417" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000513847.5:n.1804C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343486" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000514029.5:c.1477C>T" ], "proteinEffect": { "hgvs": "ENSP00000425199.1:p.Gln493Ter", "hgvsWellDefined": "ENSP00000425199.1:p.Gln493_Ser600delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyPhePheArgMetAsnLysLeuLysGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343620" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612010.4:c.1477C>T" ], "proteinEffect": { "hgvs": "ENSP00000482407.1:p.Gln493Ter", "hgvsWellDefined": "ENSP00000482407.1:p.Gln493_Thr642delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyPhePheArgMetAsnLysLeuLysGluSerSerAspThrAsnProLysProTyrCysMetAlaAlaProMetGlyLeuThrGluAsnAsnArgAsnArgLysLysSerTyrArgGluThrAsnLeuLysAlaValSerTrpProLeuAsnHisThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401116" }, { "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612452.4:c.907C>T" ], "proteinEffect": { "hgvs": "ENSP00000484033.1:p.Gln303Ter", "hgvsWellDefined": "ENSP00000484033.1:p.Gln303_Gln737delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleLysAlaAsnLeuPheAlaArgIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401311" }, { "coordinates": [ { "allele": "T", "end": 1804, "referenceAllele": "C", "start": 1803 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000613054.2:c.1477C>T" ], "proteinEffect": { "hgvs": "ENSP00000479013.1:p.Gln493Ter", "hgvsWellDefined": "ENSP00000479013.1:p.Gln493_Lys572delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgAsnThrArgArgLysArgLeuTrpLysLeuIleIleArgSerIleAsnSerCysIleCysSerProArgGluThrGluValProValArgGlnGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401578" }, { "@id": "http://reg.genome.network/allele/PA2825026864", "coordinates": [ { "allele": "T", "end": 2592, "referenceAllele": "C", "start": 2591 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ 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"NP_000035.2:p.Gln493_Gln920delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006109" }, { "@id": "http://reg.genome.network/allele/PA2825026864", "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.4:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Gln493Ter", "hgvsWellDefined": "NP_000035.2:p.Gln493_Gln920delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510743" }, { "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001011645.3:c.-307C>T" ], "proteinEffect": { "hgvs": "NP_001011645.1:n.-307C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS511003" }, { "@id": "http://reg.genome.network/allele/PA2827427097", "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348061.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001334990.1:p.Gln493Ter", "hgvsWellDefined": "NP_001334990.1:p.Gln493_Pro644delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517980" }, { "@id": "http://reg.genome.network/allele/PA2827427477", "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348063.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001334992.1:p.Gln493Ter", "hgvsWellDefined": "NP_001334992.1:p.Gln493_Pro648delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaAlaValValValSerGluArgIleLeuArgValPheGlyValSerGluTrpLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517981" }, { "@id": "http://reg.genome.network/allele/PA2573204746", "coordinates": [ { "allele": "T", "end": 2001, "referenceAllele": "C", "start": 2000 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348064.1:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_001334993.1:p.Gln493Ter", "hgvsWellDefined": "NP_001334993.1:p.Gln493_Lys572delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgAsnThrArgArgLysArgLeuTrpLysLeuIleIleArgSerIleAsnSerCysIleCysSerProArgGluThrGluValProValArgGlnGlnLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517982" }, { "@id": "http://reg.genome.network/allele/PA2825026864", "coordinates": [ { "allele": "T", "end": 2603, "referenceAllele": "C", "start": 2602 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.6:c.1477C>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Gln493Ter", "hgvsWellDefined": "NP_000035.2:p.Gln493_Gln920delinsGluSerAspPheThrAlaProAspValTrpTyrProGlyGlyMetValSerArgValProTyrProSerProThrCysValLysSerGluMetGlyProTrpMetAspSerTyrSerGlyProTyrGlyAspMetArgLeuGluThrAlaArgAspHisValLeuProIleAspTyrTyrPheProProGlnLysThrCysLeuIleCysGlyAspGluAlaSerGlyCysHisTyrGlyAlaLeuThrCysGlySerCysLysValPhePheLysArgAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674674", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374690.9:c.1477C>T" }, "RefSeq": { "hgvs": "NM_000044.6:c.1477C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363822.3:p.Gln493Ter" }, "RefSeq": { "hgvs": "NP_000035.2:p.Gln493Ter" } } } } ], "type": "nucleotide" }