{ "@context": "http://reg.genome.network/schema/allele.jsonld", "@id": "http://reg.genome.network/allele/CA363501324", "communityStandardTitle": [ "NM_000500.9(CYP21A2):c.377C>G (p.Ser126Ter)" ], "externalRecords": { "ClinVarAlleles": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/?term=362051[alleleid]", "alleleId": 362051, "preferredName": "NM_000500.9(CYP21A2):c.377C>G (p.Ser126Ter)" } ], "ClinVarVariations": [ { "@id": "http://www.ncbi.nlm.nih.gov/clinvar/variation/375321", "RCV": [ "RCV001865312" ], "variationId": 375321 } ], "MyVariantInfo_hg19": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.32006955C>G?assembly=hg19", "id": "chr6:g.32006955C>G" } ], "MyVariantInfo_hg38": [ { "@id": "http://myvariant.info/v1/variant/chr6:g.32039178C>G?assembly=hg38", "id": "chr6:g.32039178C>G" } ], "dbSNP": [ { "@id": "http://www.ncbi.nlm.nih.gov/snp/1057519069", "rs": 1057519069 } ] }, "genomicAlleles": [ { "chromosome": "6", "coordinates": [ { "allele": "G", "end": 32039178, 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"ENSP00000415043.2:p.Ser96_Gln465delinsAlaLeuLeuLeuGlyIleArgAspSerMetGluProValValGluGlnLeuThrGlnGluPheCysGluArgMetArgAlaGlnProGlyThrProValAlaIleGluGluGluPheSerLeuLeuThrCysSerIleIleCysTyrLeuThrPheGlyAspLysIleLysAspAspAsnLeuMetProAlaTyrTyrLysCysIleGlnGluValLeuLysThrTrpSerHisTrpSerIleGlnIleValAspValIleProPheLeuArgPhePheProAsnProGlyLeuArgArgLeuLysGlnAlaIleGluLysArgAspHisIleValGluMetGlnLeuArgGlnHisLysGluSerLeuValAlaGlyGlnTrpArgAspMetMetAspTyrMetLeuGlnGlyValAlaGlnProSerMetGluGluGlySerGlyGlnLeuLeuGluGlyHisValHisMetAlaAlaValAspLeuLeuIleGlyGlyThrGluThrThrAlaAsnThrLeuSerTrpAlaValValPheLeuLeuHisHisProGluIleGlnGlnArgLeuGlnGluGluLeuAspHisGluLeuGlyProGlyAlaSerSerSerArgValProTyrLysAspArgAlaArgLeuProLeuLeuAsnAlaThrIleAlaGluValLeuArgLeuArgProValValProLeuAlaLeuProHisArgThrThrArgProSerSerIleSerGlyTyrAspIleProGluGlyThrValIleIleProAsnLeuGlnGlyAlaHisLeuAspGluThrValTrpGluArgProHisGluPheTrpProAspArgPheLeuGluProGlyLysAsnSerArgAlaLeuAlaPheGlyCysGlyAlaArgValCysLeuGlyGluProLeuAlaArgLeuGluLeuPheValValLeuThrArgLeuLeuGlnAlaPheThrLeuLeuProSerGlyAspAlaLeuProSerLeuGlnProLeuProHisCysSerValIleLeuLysMetGlnProPheGlnValArgLeuGlnProArgGlyMetGlyAlaHisSerProGlyGlnSerGlnTer" 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"http://reg.genome.network/refseq/RS310129" }, { "coordinates": [ { "allele": "G", "end": 313, "referenceAllele": "C", "start": 312 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000469053.5:c.*69C>G" ], "proteinEffect": { "hgvs": "ENSP00000418104.1:n.*69C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS311823" }, { "coordinates": [ { "allele": "G", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000471671.4:c.377C>G" ], "proteinEffect": { "hgvs": "ENSP00000418561.1:p.Ser126Ter", "hgvsWellDefined": "ENSP00000418561.1:p.Ser126Ter" }, "referenceSequence": "http://reg.genome.network/refseq/RS313812" }, { "coordinates": [ { "allele": "G", "end": 451, "referenceAllele": "C", "start": 450 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000478281.5:c.410C>G" ], "proteinEffect": { "hgvs": "ENSP00000419572.1:p.Ser137Ter", "hgvsWellDefined": "ENSP00000419572.1:p.Ser137_Tyr186del" }, "referenceSequence": "http://reg.genome.network/refseq/RS318924" }, { "coordinates": [ { "allele": "G", "end": 435, "referenceAllele": "C", "start": 434 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000479074.5:n.435C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS319535" }, { "coordinates": [ { "allele": "G", "end": 532, "referenceAllele": "C", "start": 531 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000479730.5:n.532C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS320037" }, { "coordinates": [ { "allele": "G", "end": 546, "referenceAllele": "C", "start": 545 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000483041.5:n.546C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS322604" }, { "coordinates": [ { "allele": "G", "end": 557, "referenceAllele": "C", "start": 556 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000486063.5:n.557C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS324957" }, { "coordinates": [ { "allele": "G", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "ENST00000488465.1:n.385C>G" ], "referenceSequence": "http://reg.genome.network/refseq/RS326762" }, { "@id": "http://reg.genome.network/allele/PA645381332", "coordinates": [ { "allele": "G", "end": 484, "referenceAllele": "C", "start": 483 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_000500.7:c.377C>G" ], "proteinEffect": { "hgvs": "NP_000491.4:p.Ser126Ter", "hgvsWellDefined": "NP_000491.4:p.Ser126_Gln495delinsAlaLeuLeuLeuGlyIleArgAspSerMetGluProValValGluGlnLeuThrGlnGluPheCysGluArgMetArgAlaGlnProGlyThrProValAlaIleGluGluGluPheSerLeuLeuThrCysSerIleIleCysTyrLeuThrPheGlyAspLysIleLysAspAspAsnLeuMetProAlaTyrTyrLysCysIleGlnGluValLeuLysThrTrpSerHisTrpSerIleGlnIleValAspValIleProPheLeuArgPhePheProAsnProGlyLeuArgArgLeuLysGlnAlaIleGluLysArgAspHisIleValGluMetGlnLeuArgGlnHisLysGluSerLeuValAlaGlyGlnTrpArgAspMetMetAspTyrMetLeuGlnGlyValAlaGlnProSerMetGluGluGlySerGlyGlnLeuLeuGluGlyHisValHisMetAlaAlaValAspLeuLeuIleGlyGlyThrGluThrThrAlaAsnThrLeuSerTrpAlaValValPheLeuLeuHisHisProGluIleGlnGlnArgLeuGlnGluGluLeuAspHisGluLeuGlyProGlyAlaSerSerSerArgValProTyrLysAspArgAlaArgLeuProLeuLeuAsnAlaThrIleAlaGluValLeuArgLeuArgProValValProLeuAlaLeuProHisArgThrThrArgProSerSerIleSerGlyTyrAspIleProGluGlyThrValIleIleProAsnLeuGlnGlyAlaHisLeuAspGluThrValTrpGluArgProHisGluPheTrpProAspArgPheLeuGluProGlyLysAsnSerArgAlaLeuAlaPheGlyCysGlyAlaArgValCysLeuGlyGluProLeuAlaArgLeuGluLeuPheValValLeuThrArgLeuLeuGlnAlaPheThrLeuLeuProSerGlyAspAlaLeuProSerLeuGlnProLeuProHisCysSerValIleLeuLysMetGlnProPheGlnValArgLeuGlnProArgGlyMetGlyAlaHisSerProGlyGlnSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS006554" }, { "@id": "http://reg.genome.network/allele/PA915971583", "coordinates": [ { "allele": "G", "end": 394, "referenceAllele": "C", "start": 393 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001128590.3:c.287C>G" ], "proteinEffect": { "hgvs": "NP_001122062.3:p.Ser96Ter", "hgvsWellDefined": "NP_001122062.3:p.Ser96_Gln465delinsAlaLeuLeuLeuGlyIleArgAspSerMetGluProValValGluGlnLeuThrGlnGluPheCysGluArgMetArgAlaGlnProGlyThrProValAlaIleGluGluGluPheSerLeuLeuThrCysSerIleIleCysTyrLeuThrPheGlyAspLysIleLysAspAspAsnLeuMetProAlaTyrTyrLysCysIleGlnGluValLeuLysThrTrpSerHisTrpSerIleGlnIleValAspValIleProPheLeuArgPhePheProAsnProGlyLeuArgArgLeuLysGlnAlaIleGluLysArgAspHisIleValGluMetGlnLeuArgGlnHisLysGluSerLeuValAlaGlyGlnTrpArgAspMetMetAspTyrMetLeuGlnGlyValAlaGlnProSerMetGluGluGlySerGlyGlnLeuLeuGluGlyHisValHisMetAlaAlaValAspLeuLeuIleGlyGlyThrGluThrThrAlaAsnThrLeuSerTrpAlaValValPheLeuLeuHisHisProGluIleGlnGlnArgLeuGlnGluGluLeuAspHisGluLeuGlyProGlyAlaSerSerSerArgValProTyrLysAspArgAlaArgLeuProLeuLeuAsnAlaThrIleAlaGluValLeuArgLeuArgProValValProLeuAlaLeuProHisArgThrThrArgProSerSerIleSerGlyTyrAspIleProGluGlyThrValIleIleProAsnLeuGlnGlyAlaHisLeuAspGluThrValTrpGluArgProHisGluPheTrpProAspArgPheLeuGluProGlyLysAsnSerArgAlaLeuAlaPheGlyCysGlyAlaArgValCysLeuGlyGluProLeuAlaArgLeuGluLeuPheValValLeuThrArgLeuLeuGlnAlaPheThrLeuLeuProSerGlyAspAlaLeuProSerLeuGlnProLeuProHisCysSerValIleLeuLysMetGlnProPheGlnValArgLeuGlnProArgGlyMetGlyAlaHisSerProGlyGlnSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS011786" }, { "coordinates": [ { "allele": "G", "end": 449, "referenceAllele": "C", "start": 448 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "XM_011514314.1:c.-29C>G" ], "proteinEffect": { "hgvs": "XP_011512616.1:n.-29C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS081539" }, { "@id": "http://reg.genome.network/allele/PA645381332", "coordinates": [ { "allele": "G", "end": 385, "referenceAllele": "C", "start": 384 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_000500.9:c.377C>G" ], "proteinEffect": { "hgvs": "NP_000491.4:p.Ser126Ter", "hgvsWellDefined": "NP_000491.4:p.Ser126_Gln495delinsAlaLeuLeuLeuGlyIleArgAspSerMetGluProValValGluGlnLeuThrGlnGluPheCysGluArgMetArgAlaGlnProGlyThrProValAlaIleGluGluGluPheSerLeuLeuThrCysSerIleIleCysTyrLeuThrPheGlyAspLysIleLysAspAspAsnLeuMetProAlaTyrTyrLysCysIleGlnGluValLeuLysThrTrpSerHisTrpSerIleGlnIleValAspValIleProPheLeuArgPhePheProAsnProGlyLeuArgArgLeuLysGlnAlaIleGluLysArgAspHisIleValGluMetGlnLeuArgGlnHisLysGluSerLeuValAlaGlyGlnTrpArgAspMetMetAspTyrMetLeuGlnGlyValAlaGlnProSerMetGluGluGlySerGlyGlnLeuLeuGluGlyHisValHisMetAlaAlaValAspLeuLeuIleGlyGlyThrGluThrThrAlaAsnThrLeuSerTrpAlaValValPheLeuLeuHisHisProGluIleGlnGlnArgLeuGlnGluGluLeuAspHisGluLeuGlyProGlyAlaSerSerSerArgValProTyrLysAspArgAlaArgLeuProLeuLeuAsnAlaThrIleAlaGluValLeuArgLeuArgProValValProLeuAlaLeuProHisArgThrThrArgProSerSerIleSerGlyTyrAspIleProGluGlyThrValIleIleProAsnLeuGlnGlyAlaHisLeuAspGluThrValTrpGluArgProHisGluPheTrpProAspArgPheLeuGluProGlyLysAsnSerArgAlaLeuAlaPheGlyCysGlyAlaArgValCysLeuGlyGluProLeuAlaArgLeuGluLeuPheValValLeuThrArgLeuLeuGlnAlaPheThrLeuLeuProSerGlyAspAlaLeuProSerLeuGlnProLeuProHisCysSerValIleLeuLysMetGlnProPheGlnValArgLeuGlnProArgGlyMetGlyAlaHisSerProGlyGlnSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS510804", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000644719.2:c.377C>G" }, "RefSeq": { "hgvs": "NM_000500.9:c.377C>G" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000496625.1:p.Ser126Ter" }, "RefSeq": { "hgvs": "NP_000491.4:p.Ser126Ter" } } } }, { "coordinates": [ { "allele": "G", "end": 513, "referenceAllele": "C", "start": 512 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368143.1:c.-29C>G" ], "proteinEffect": { "hgvs": "NP_001355072.1:n.-29C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS691373" }, { "coordinates": [ { "allele": "G", "end": 423, "referenceAllele": "C", "start": 422 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368144.1:c.-29C>G" ], "proteinEffect": { "hgvs": "NP_001355073.1:n.-29C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS691374" }, { "@id": "http://reg.genome.network/allele/PA915971583", "coordinates": [ { "allele": "G", "end": 295, "referenceAllele": "C", "start": 294 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001128590.4:c.287C>G" ], "proteinEffect": { "hgvs": "NP_001122062.3:p.Ser96Ter", "hgvsWellDefined": "NP_001122062.3:p.Ser96_Gln465delinsAlaLeuLeuLeuGlyIleArgAspSerMetGluProValValGluGlnLeuThrGlnGluPheCysGluArgMetArgAlaGlnProGlyThrProValAlaIleGluGluGluPheSerLeuLeuThrCysSerIleIleCysTyrLeuThrPheGlyAspLysIleLysAspAspAsnLeuMetProAlaTyrTyrLysCysIleGlnGluValLeuLysThrTrpSerHisTrpSerIleGlnIleValAspValIleProPheLeuArgPhePheProAsnProGlyLeuArgArgLeuLysGlnAlaIleGluLysArgAspHisIleValGluMetGlnLeuArgGlnHisLysGluSerLeuValAlaGlyGlnTrpArgAspMetMetAspTyrMetLeuGlnGlyValAlaGlnProSerMetGluGluGlySerGlyGlnLeuLeuGluGlyHisValHisMetAlaAlaValAspLeuLeuIleGlyGlyThrGluThrThrAlaAsnThrLeuSerTrpAlaValValPheLeuLeuHisHisProGluIleGlnGlnArgLeuGlnGluGluLeuAspHisGluLeuGlyProGlyAlaSerSerSerArgValProTyrLysAspArgAlaArgLeuProLeuLeuAsnAlaThrIleAlaGluValLeuArgLeuArgProValValProLeuAlaLeuProHisArgThrThrArgProSerSerIleSerGlyTyrAspIleProGluGlyThrValIleIleProAsnLeuGlnGlyAlaHisLeuAspGluThrValTrpGluArgProHisGluPheTrpProAspArgPheLeuGluProGlyLysAsnSerArgAlaLeuAlaPheGlyCysGlyAlaArgValCysLeuGlyGluProLeuAlaArgLeuGluLeuPheValValLeuThrArgLeuLeuGlnAlaPheThrLeuLeuProSerGlyAspAlaLeuProSerLeuGlnProLeuProHisCysSerValIleLeuLysMetGlnProPheGlnValArgLeuGlnProArgGlyMetGlyAlaHisSerProGlyGlnSerGlnTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS712257" }, { "coordinates": [ { "allele": "G", "end": 404, "referenceAllele": "C", "start": 403 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368143.2:c.-29C>G" ], "proteinEffect": { "hgvs": "NP_001355072.1:n.-29C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS721082" }, { "coordinates": [ { "allele": "G", "end": 314, "referenceAllele": "C", "start": 313 } ], "gene": "http://reg.genome.network/gene/GN002600", "geneNCBI_id": 1589, "geneSymbol": "CYP21A2", "hgvs": [ "NM_001368144.2:c.-29C>G" ], "proteinEffect": { "hgvs": "NP_001355073.1:n.-29C>G" }, "referenceSequence": "http://reg.genome.network/refseq/RS721083" } ], "type": "nucleotide" }