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"http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XM_005257229.4:c.1027C>T" ], "proteinEffect": { "hgvs": "XP_005257286.1:p.Gln343Ter", "hgvsWellDefined": "XP_005257286.1:p.Gln343_Leu562delinsArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProGlyThrProSerAlaCysHisIlePheGluGlyHisTrpGlnLeuArgAsnHisArgThrLeuGluArgAlaTrpMetAsnTrpAspGlyLeuArgLeuLysGluAspValGlyGlyGlySerGlyProThrSerThrValSerSerProAlaAlaAlaAlaGlyProValTrpGluGlyLeuGluMetProTrpSerPheSerIleSerLeuCysCysArgGlnHisThrPheLeuMetGluValProGlyCysTrpArgSerLeuGlyAlaTrpLysSerSerLeuMetPheThrArgProThrLeuTrpProHisSerGluArgIleThrLeuAlaAsnProMetProGlyCysAlaLeuValAspLeuMetSerLeuSerGlnThrSerAlaAlaSerSerGlyCysLeuThrArgValGlyMetSerLeuTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS534626" }, { "coordinates": [ { "allele": "T", "end": 1063, "referenceAllele": "C", "start": 1062 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "XR_243646.4:n.1063C>T" ], "referenceSequence": "http://reg.genome.network/refseq/RS606021" }, { "@id": "http://reg.genome.network/allele/PA339947", "coordinates": [ { "allele": "T", "end": 1060, "referenceAllele": "C", "start": 1059 } ], "gene": "http://reg.genome.network/gene/GN027561", "geneNCBI_id": 283989, "geneSymbol": "TSEN54", "hgvs": [ "NM_207346.3:c.1027C>T" ], "proteinEffect": { "hgvs": "NP_997229.2:p.Gln343Ter", "hgvsWellDefined": "NP_997229.2:p.Gln343_His526delinsArgLysGluLysLeuSerArgArgGluArgGluHisHisAlaGluAlaAlaGlnPheGlnGluAspValAsnAlaAspProGluValGlnArgCysSerSerTrpArgGluTyrLysGluLeuLeuGlnArgArgGlnValGlnArgSerGlnArgArgAlaProHisLeuTrpGlyGlnProValThrProLeuLeuSerProGlyGlnAlaSerSerProAlaValValLeuGlnHisIleSerValLeuGlnThrThrHisLeuProAspGlyGlyAlaArgLeuLeuGluLysSerGlyGlyLeuGluIleIlePheAspValTyrGlnAlaAspAlaValAlaThrPheArgLysAsnAsnProGlyLysProTyrAlaArgMetCysIleSerGlyPheAspGluProValProAspLeuCysSerLeuLysArgLeuSerTyrGlnSerGlyAspValProLeuIlePheAlaLeuValAspHisGlyAspIleSerPheTyrSerPheArgAspPheThrLeuProGlnAspValGlyHisTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS673297", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000333213.11:c.1027C>T" }, "RefSeq": { "hgvs": "NM_207346.3:c.1027C>T" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000327487.6:p.Gln343Ter" }, "RefSeq": { "hgvs": "NP_997229.2:p.Gln343Ter" } } } } ], "type": "nucleotide" }