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"XP_011530279.1:p.Arg677_Lys988delinsLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099006" }, { "coordinates": [ { "allele": "T", "end": 2392, "referenceAllele": "C", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.1:c.2029C>T" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Arg677Ter", "hgvsWellDefined": "XP_011530280.1:p.Arg677_Gly849delinsLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS099007" }, { "coordinates": [ { "allele": "T", "end": 2189, "endIntronDirection": "-", "endIntronOffset": 2285, "referenceAllele": "C", "start": 2189, "startIntronDirection": "-", "startIntronOffset": 2286 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001354819.1:c.2015-2286C>T" ], "proteinEffect": { "hgvs": "NP_001341748.1:n.2015-2286C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS522703" }, { "coordinates": [ { "allele": "T", "end": 2377, "endIntronDirection": "-", "endIntronOffset": 34610, "referenceAllele": "C", "start": 2377, "startIntronDirection": "-", "startIntronOffset": 34611 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.1:n.2378-34611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS531419" }, { "coordinates": [ { "allele": "T", "end": 2392, "referenceAllele": "C", "start": 2391 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "XM_011531978.2:c.2029C>T" ], "proteinEffect": { "hgvs": "XP_011530280.1:p.Arg677Ter", "hgvsWellDefined": "XP_011530280.1:p.Arg677_Gly849delinsLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluLeuLeuAlaArgValArgGluGlyTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS550644" }, { "@id": "http://reg.genome.network/allele/PA119751", "coordinates": [ { "allele": "T", "end": 2274, "referenceAllele": "C", "start": 2273 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_000901.5:c.2017C>T" ], "proteinEffect": { "hgvs": "NP_000892.2:p.Arg673Ter", "hgvsWellDefined": "NP_000892.2:p.Arg673_Lys984delinsLysSerLysLysLeuGlyLysLeuLysGlyIleHisGluGluGlnProGlnGlnGlnGlnProProProProProProProProGlnSerProGluGluGlyThrThrTyrIleAlaProAlaLysGluProSerValAsnThrAlaLeuValProGlnLeuSerThrIleSerArgAlaLeuThrProSerProValMetValLeuGluAsnIleGluProGluIleValTyrAlaGlyTyrAspSerSerLysProAspThrAlaGluAsnLeuLeuSerThrLeuAsnArgLeuAlaGlyLysGlnMetIleGlnValValLysTrpAlaLysValLeuProGlyPheLysAsnLeuProLeuGluAspGlnIleThrLeuIleGlnTyrSerTrpMetCysLeuSerSerPheAlaLeuSerTrpArgSerTyrLysHisThrAsnSerGlnPheLeuTyrPheAlaProAspLeuValPheAsnGluGluLysMetHisGlnSerAlaMetTyrGluLeuCysGlnGlyMetHisGlnIleSerLeuGlnPheValArgLeuGlnLeuThrPheGluGluTyrThrIleMetLysValLeuLeuLeuLeuSerThrIleProLysAspGlyLeuLysSerGlnAlaAlaPheGluGluMetArgThrAsnTyrIleLysGluLeuArgLysMetValThrLysCysProAsnAsnSerGlyGlnSerTrpGlnArgPheTyrGlnLeuThrLysLeuLeuAspSerMetHisAspLeuValSerAspLeuLeuGluPheCysPheTyrThrPheArgGluSerHisAlaLeuLysValGluPheProAlaMetLeuValGluIleIleSerAspGlnLeuProLysValGluSerGlyAsnAlaLysProLeuTyrPheHisArgLysTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS662637", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000358102.8:c.2017C>T" }, "RefSeq": { "hgvs": "NM_000901.5:c.2017C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000350815.3:p.Arg673Ter" }, "RefSeq": { "hgvs": "NP_000892.2:p.Arg673Ter" } } } }, { "coordinates": [ { "allele": "T", "end": 2271, "endIntronDirection": "-", "endIntronOffset": 2285, "referenceAllele": "C", "start": 2271, "startIntronDirection": "-", "startIntronOffset": 2286 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NM_001166104.2:c.2015-2286C>T" ], "proteinEffect": { "hgvs": "NP_001159576.1:n.2015-2286C>T" }, "referenceSequence": "http://reg.genome.network/refseq/RS678459" }, { "coordinates": [ { "allele": "T", "end": 2271, "endIntronDirection": "-", "endIntronOffset": 34610, "referenceAllele": "C", "start": 2271, "startIntronDirection": "-", "startIntronOffset": 34611 } ], "gene": "http://reg.genome.network/gene/GN007979", "geneNCBI_id": 4306, "geneSymbol": "NR3C2", "hgvs": [ "NR_148974.2:n.2272-34611C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS704899" } ], "type": "nucleotide" }