{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA413422908", "communityStandardTitle": [ "NM_000044.6(AR):c.1756A>T (p.Arg586Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=2142154[alleleid]", "alleleId": 2142154, "preferredName": "NM_000044.6(AR):c.1756A>T (p.Arg586Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/2077770", "RCV": [ "RCV002985696" ], "variationId": 2077770 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.66863237A>T?assembly=hg19", "id": "chrX:g.66863237A>T" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chrX:g.67643395A>T?assembly=hg38", "id": "chrX:g.67643395A>T" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/767711979", "rs": 767711979 } ] }, "genomicAlleles": [ { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 67643395, "referenceAllele": "A", "start": 67643394 } ], "hgvs": [ "NC_000023.11:g.67643395A>T", "CM000685.2:g.67643395A>T" ], "referenceGenome": "GRCh38", "referenceSequence": "http://reg.genome.network/refseq/RS000071" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 66863237, "referenceAllele": "A", "start": 66863236 } ], "hgvs": [ "NC_000023.10:g.66863237A>T", "CM000685.1:g.66863237A>T" ], "referenceGenome": "GRCh37", "referenceSequence": "http://reg.genome.network/refseq/RS000047" }, { "chromosome": "X", "coordinates": [ { "allele": "T", "end": 66779962, "referenceAllele": "A", "start": 66779961 } ], "hgvs": [ "NC_000023.9:g.66779962A>T" ], "referenceGenome": "NCBI36", "referenceSequence": "http://reg.genome.network/refseq/RS000023" }, { "coordinates": [ { "allele": "T", "end": 104364, "referenceAllele": "A", "start": 104363 } ], "hgvs": [ "NG_009014.2:g.104364A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS001379" } ], "transcriptAlleles": [ { "coordinates": [ { "allele": "T", "end": 3069, "referenceAllele": "A", "start": 3068 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396043.4:c.*104A>T" ], "proteinEffect": { "hgvs": "ENSP00000379358.4:n.*104A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS914009" }, { "coordinates": [ { "allele": "T", "end": 2882, "referenceAllele": "A", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000374690.9:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000363822.3:p.Arg586Ter", "hgvsWellDefined": "ENSP00000363822.3:p.Arg586_Gln920delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS751477", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374690.9:c.1756A>T" }, "RefSeq": { "hgvs": "NM_000044.6:c.1756A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363822.3:p.Arg586Ter" }, "RefSeq": { "hgvs": "NP_000035.2:p.Arg586Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 383, "referenceAllele": "A", "start": 382 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396043.3:c.383A>T" ], "proteinEffect": { "hgvs": "ENSP00000379358.3:n.383A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS753474" }, { "coordinates": [ { "allele": "T", "end": 1759, "referenceAllele": "A", "start": 1758 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396044.8:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000379359.3:p.Arg586Ter", "hgvsWellDefined": "ENSP00000379359.3:p.Arg586_Phe734delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProAspCysGluArgAlaAlaSerValHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS753475" }, { "coordinates": [ { "allele": "T", "end": 2882, "referenceAllele": "A", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612452.5:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000484033.2:p.Arg586Ter", "hgvsWellDefined": "ENSP00000484033.2:p.Arg586_Gln920delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS761876" }, { "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000374690.7:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000363822.3:p.Arg586Ter", "hgvsWellDefined": "ENSP00000363822.3:p.Arg586_Gln920delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS270362" }, { "coordinates": [ { "allele": "T", "end": 274, "referenceAllele": "A", "start": 273 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396043.2:c.160A>T" ], "proteinEffect": { "hgvs": "ENSP00000379358.2:p.Arg54Ter", "hgvsWellDefined": "ENSP00000379358.2:p.Arg54_Gln388delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277057" }, { "coordinates": [ { "allele": "T", "end": 2871, "referenceAllele": "A", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000396044.7:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000379359.3:p.Arg586Ter", "hgvsWellDefined": "ENSP00000379359.3:p.Arg586_Phe734delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProAspCysGluArgAlaAlaSerValHisPheTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS277058" }, { "coordinates": [ { "allele": "T", "end": 2083, "referenceAllele": "A", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000504326.5:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000421155.1:p.Arg586Ter", "hgvsWellDefined": "ENSP00000421155.1:p.Arg586_Pro644delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS336417" }, { "coordinates": [ { "allele": "T", "end": 2083, "referenceAllele": "A", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000513847.5:n.2083A>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS343486" }, { "coordinates": [ { "allele": "T", "end": 2083, "referenceAllele": "A", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000514029.5:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000425199.1:p.Arg586Ter", "hgvsWellDefined": "ENSP00000425199.1:p.Arg586_Ser600delinsAlaAlaGluGlyPhePheArgMetAsnLysLeuLysGluSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS343620" }, { "coordinates": [ { "allele": "T", "end": 2083, "referenceAllele": "A", "start": 2082 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612010.4:c.1756A>T" ], "proteinEffect": { "hgvs": "ENSP00000482407.1:p.Arg586Ter", "hgvsWellDefined": "ENSP00000482407.1:p.Arg586_Thr642delinsAlaAlaGluGlyPhePheArgMetAsnLysLeuLysGluSerSerAspThrAsnProLysProTyrCysMetAlaAlaProMetGlyLeuThrGluAsnAsnArgAsnArgLysLysSerTyrArgGluThrAsnLeuLysAlaValSerTrpProLeuAsnHisThrTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401116" }, { "coordinates": [ { "allele": "T", "end": 2871, "referenceAllele": "A", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000612452.4:c.1186A>T" ], "proteinEffect": { "hgvs": "ENSP00000484033.1:p.Arg396Ter", "hgvsWellDefined": "ENSP00000484033.1:p.Arg396_Gln737delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleLysAlaAsnLeuPheAlaArgIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS401311" }, { "coordinates": [ { "allele": "T", "end": 1943, "endIntronDirection": "-", "endIntronOffset": 42545, "referenceAllele": "A", "start": 1943, "startIntronDirection": "-", "startIntronOffset": 42546 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "ENST00000613054.2:c.1617-42546A>T" ], "proteinEffect": { "hgvs": "ENSP00000479013.1:n.1617-42546A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS401578" }, { "@id": "http://reg.genome.network/allele/PA2825026916", "coordinates": [ { "allele": "T", "end": 2871, "referenceAllele": "A", "start": 2870 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.3:c.1756A>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Arg586Ter", "hgvsWellDefined": "NP_000035.2:p.Arg586_Gln920delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006109" }, { "@id": "http://reg.genome.network/allele/PA2825305255", "coordinates": [ { "allele": "T", "end": 322, "referenceAllele": "A", "start": 321 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001011645.2:c.160A>T" ], "proteinEffect": { "hgvs": "NP_001011645.1:p.Arg54Ter", "hgvsWellDefined": "NP_001011645.1:p.Arg54_Gln388delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS008239" }, { "@id": "http://reg.genome.network/allele/PA2825026916", "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.4:c.1756A>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Arg586Ter", "hgvsWellDefined": "NP_000035.2:p.Arg586_Gln920delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510743" }, { "@id": "http://reg.genome.network/allele/PA2825305255", "coordinates": [ { "allele": "T", "end": 2467, "referenceAllele": "A", "start": 2466 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001011645.3:c.160A>T" ], "proteinEffect": { "hgvs": "NP_001011645.1:p.Arg54Ter", "hgvsWellDefined": "NP_001011645.1:p.Arg54_Gln388delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS511003" }, { "@id": "http://reg.genome.network/allele/PA2827427149", "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348061.1:c.1756A>T" ], "proteinEffect": { "hgvs": "NP_001334990.1:p.Arg586Ter", "hgvsWellDefined": "NP_001334990.1:p.Arg586_Pro644delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyGluLysPheArgValGlyAsnCysLysHisLeuLysMetThrArgProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517980" }, { "@id": "http://reg.genome.network/allele/PA2580210068", "coordinates": [ { "allele": "T", "end": 2280, "referenceAllele": "A", "start": 2279 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348063.1:c.1756A>T" ], "proteinEffect": { "hgvs": "NP_001334992.1:p.Arg586Ter", "hgvsWellDefined": "NP_001334992.1:p.Arg586_Pro648delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaAlaValValValSerGluArgIleLeuArgValPheGlyValSerGluTrpLeuProTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS517981" }, { "coordinates": [ { "allele": "T", "end": 2140, "endIntronDirection": "-", "endIntronOffset": 42545, "referenceAllele": "A", "start": 2140, "startIntronDirection": "-", "startIntronOffset": 42546 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_001348064.1:c.1617-42546A>T" ], "proteinEffect": { "hgvs": "NP_001334993.1:n.1617-42546A>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS517982" }, { "@id": "http://reg.genome.network/allele/PA2825026916", "coordinates": [ { "allele": "T", "end": 2882, "referenceAllele": "A", "start": 2881 } ], "gene": "http://reg.genome.network/gene/GN000644", "geneNCBI_id": 367, "geneSymbol": "AR", "hgvs": [ "NM_000044.6:c.1756A>T" ], "proteinEffect": { "hgvs": "NP_000035.2:p.Arg586Ter", "hgvsWellDefined": "NP_000035.2:p.Arg586_Gln920delinsAlaAlaGluGlyLysGlnLysTyrLeuCysAlaSerArgAsnAspCysThrIleAspLysPheArgArgLysAsnCysProSerCysArgLeuArgLysCysTyrGluAlaGlyMetThrLeuGlyAlaArgLysLeuLysLysLeuGlyAsnLeuLysLeuGlnGluGluGlyGluAlaSerSerThrThrSerProThrGluGluThrThrGlnLysLeuThrValSerHisIleGluGlyTyrGluCysGlnProIlePheLeuAsnValLeuGluAlaIleGluProGlyValValCysAlaGlyHisAspAsnAsnGlnProAspSerPheAlaAlaLeuLeuSerSerLeuAsnGluLeuGlyGluArgGlnLeuValHisValValLysTrpAlaLysAlaLeuProGlyPheArgAsnLeuHisValAspAspGlnMetAlaValIleGlnTyrSerTrpMetGlyLeuMetValPheAlaMetGlyTrpArgSerPheThrAsnValAsnSerArgMetLeuTyrPheAlaProAspLeuValPheAsnGluTyrArgMetHisLysSerArgMetTyrSerGlnCysValArgMetArgHisLeuSerGlnGluPheGlyTrpLeuGlnIleThrProGlnGluPheLeuCysMetLysAlaLeuLeuLeuPheSerIleIleProValAspGlyLeuLysAsnGlnLysPhePheAspGluLeuArgMetAsnTyrIleLysGluLeuAspArgIleIleAlaCysLysArgLysAsnProThrSerCysSerArgArgPheTyrGlnLeuThrLysLeuLeuAspSerValGlnProIleAlaArgGluLeuHisGlnPheThrPheAspLeuLeuIleLysSerHisMetValSerValAspPheProGluMetMetAlaGluIleIleSerValGlnValProLysIleLeuSerGlyLysValLysProIleTyrPheHisThrGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674674", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000374690.9:c.1756A>T" }, "RefSeq": { "hgvs": "NM_000044.6:c.1756A>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000363822.3:p.Arg586Ter" }, "RefSeq": { "hgvs": "NP_000035.2:p.Arg586Ter" } } } } ], "type": "nucleotide" }