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"http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_006713789.3:c.2611G>T" ], "proteinEffect": { "hgvs": "XP_006713852.1:p.Glu871Ter", "hgvsWellDefined": "XP_006713852.1:p.Glu871_Ser1078delinsValArgCysSerThrAlaAlaHisAlaPheLysValAlaAlaArgAlaThrLeuArgArgSerAsnValSerArgLysArgSerSerSerLeuGlyGlySerThrGlySerThrProSerSerSerIleSerSerLysSerAsnSerGluAspProPheProGlnProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnProArgCysLysGlnLysValIlePheGlySerGlyThrValThrPheSerLeuSerPheAspGluProGlnLysAsnAlaMetAlaHisArgAsnSerThrHisGlnAsnSerLeuGluAlaGlnLysSerSerAspThrLeuThrArgHisGluProLeuLeuProLeuGlnCysGlyGluThrAspLeuAspLeuThrValGlnGluThrGlyLeuGlnGlyProValGlyGlyAspGlnArgProGluValGluAspProGluGluLeuSerProAlaLeuValValSerSerSerGlnSerPheValIleSerGlyGlyGlySerThrValThrGluAsnValValAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS538582" }, { "coordinates": [ { "allele": "T", "end": 4929, "referenceAllele": "G", "start": 4928 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_017007324.1:c.2611G>T" ], "proteinEffect": { "hgvs": "XP_016862813.1:p.Glu871Ter", "hgvsWellDefined": "XP_016862813.1:p.Glu871_Ser1078delinsValArgCysSerThrAlaAlaHisAlaPheLysValAlaAlaArgAlaThrLeuArgArgSerAsnValSerArgLysArgSerSerSerLeuGlyGlySerThrGlySerThrProSerSerSerIleSerSerLysSerAsnSerGluAspProPheProGlnProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnProArgCysLysGlnLysValIlePheGlySerGlyThrValThrPheSerLeuSerPheAspGluProGlnLysAsnAlaMetAlaHisArgAsnSerThrHisGlnAsnSerLeuGluAlaGlnLysSerSerAspThrLeuThrArgHisGluProLeuLeuProLeuGlnCysGlyGluThrAspLeuAspLeuThrValGlnGluThrGlyLeuGlnGlyProValGlyGlyAspGlnArgProGluValGluAspProGluGluLeuSerProAlaLeuValValSerSerSerGlnSerPheValIleSerGlyGlyGlySerThrValThrGluAsnValValAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562107" }, { "coordinates": [ { "allele": "T", "end": 2955, "referenceAllele": "G", "start": 2954 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "XM_017007325.1:c.2611G>T" ], "proteinEffect": { "hgvs": "XP_016862814.1:p.Glu871Ter", "hgvsWellDefined": "XP_016862814.1:p.Glu871_Ser1078delinsValArgCysSerThrAlaAlaHisAlaPheLysValAlaAlaArgAlaThrLeuArgArgSerAsnValSerArgLysArgSerSerSerLeuGlyGlySerThrGlySerThrProSerSerSerIleSerSerLysSerAsnSerGluAspProPheProGlnProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnProArgCysLysGlnLysValIlePheGlySerGlyThrValThrPheSerLeuSerPheAspGluProGlnLysAsnAlaMetAlaHisArgAsnSerThrHisGlnAsnSerLeuGluAlaGlnLysSerSerAspThrLeuThrArgHisGluProLeuLeuProLeuGlnCysGlyGluThrAspLeuAspLeuThrValGlnGluThrGlyLeuGlnGlyProValGlyGlyAspGlnArgProGluValGluAspProGluGluLeuSerProAlaLeuValValSerSerSerGlnSerPheValIleSerGlyGlyGlySerThrValThrGluAsnValValAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS562108" }, { "@id": "http://reg.genome.network/allele/PA2825153556", "coordinates": [ { "allele": "T", "end": 2998, "referenceAllele": "G", "start": 2997 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_000388.4:c.2611G>T" ], "proteinEffect": { "hgvs": "NP_000379.3:p.Glu871Ter", "hgvsWellDefined": "NP_000379.3:p.Glu871_Ser1078delinsValArgCysSerThrAlaAlaHisAlaPheLysValAlaAlaArgAlaThrLeuArgArgSerAsnValSerArgLysArgSerSerSerLeuGlyGlySerThrGlySerThrProSerSerSerIleSerSerLysSerAsnSerGluAspProPheProGlnProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnProArgCysLysGlnLysValIlePheGlySerGlyThrValThrPheSerLeuSerPheAspGluProGlnLysAsnAlaMetAlaHisArgAsnSerThrHisGlnAsnSerLeuGluAlaGlnLysSerSerAspThrLeuThrArgHisGluProLeuLeuProLeuGlnCysGlyGluThrAspLeuAspLeuThrValGlnGluThrGlyLeuGlnGlyProValGlyGlyAspGlnArgProGluValGluAspProGluGluLeuSerProAlaLeuValValSerSerSerGlnSerPheValIleSerGlyGlyGlySerThrValThrGluAsnValValAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS674823", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000639785.2:c.2611G>T" }, "RefSeq": { "hgvs": "NM_000388.4:c.2611G>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000491584.2:p.Glu871Ter" }, "RefSeq": { "hgvs": "NP_000379.3:p.Glu871Ter" } } } }, { "@id": "http://reg.genome.network/allele/PA915995452", "coordinates": [ { "allele": "T", "end": 3086, "referenceAllele": "G", "start": 3085 } ], "gene": "http://reg.genome.network/gene/GN001514", "geneNCBI_id": 846, "geneSymbol": "CASR", "hgvs": [ "NM_001178065.2:c.2641G>T" ], "proteinEffect": { "hgvs": "NP_001171536.2:p.Glu881Ter", "hgvsWellDefined": "NP_001171536.2:p.Glu881_Ser1088delinsValArgCysSerThrAlaAlaHisAlaPheLysValAlaAlaArgAlaThrLeuArgArgSerAsnValSerArgLysArgSerSerSerLeuGlyGlySerThrGlySerThrProSerSerSerIleSerSerLysSerAsnSerGluAspProPheProGlnProGluArgGlnLysGlnGlnGlnProLeuAlaLeuThrGlnGlnGluGlnGlnGlnGlnProLeuThrLeuProGlnGlnGlnArgSerGlnGlnGlnProArgCysLysGlnLysValIlePheGlySerGlyThrValThrPheSerLeuSerPheAspGluProGlnLysAsnAlaMetAlaHisArgAsnSerThrHisGlnAsnSerLeuGluAlaGlnLysSerSerAspThrLeuThrArgHisGluProLeuLeuProLeuGlnCysGlyGluThrAspLeuAspLeuThrValGlnGluThrGlyLeuGlnGlyProValGlyGlyAspGlnArgProGluValGluAspProGluGluLeuSerProAlaLeuValValSerSerSerGlnSerPheValIleSerGlyGlyGlySerThrValThrGluAsnValValAsnSerTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS678929" } ], "type": "nucleotide" }