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"A", "end": 929, "referenceAllele": "G", "start": 928 } ], "gene": "http://reg.genome.network/gene/GN015508", "geneNCBI_id": 80324, "geneSymbol": "PUS1", "hgvs": [ "NM_025215.6:c.482G>A" ], "proteinEffect": { "hgvs": "NP_079491.2:p.Trp161Ter", "hgvsWellDefined": "NP_079491.2:p.Trp161_Asp427delinsLeuIleAspAspIleLeuGluLysIleAsnSerHisLeuProSerHisIleArgIleLeuGlyLeuLysArgValThrGlyGlyPheAsnSerLysAsnArgCysAspAlaArgThrTyrCysTyrLeuLeuProThrPheAlaPheAlaHisLysAspArgAspValGlnAspGluThrTyrArgLeuSerAlaGluThrLeuGlnGlnValAsnArgLeuLeuAlaCysTyrLysGlyThrHisAsnPheHisAsnPheThrSerGlnLysGlyProGlnAspProSerAlaCysArgTyrIleLeuGluMetTyrCysGluGluProPheValArgGluGlyLeuGluPheAlaValIleArgValLysGlyGlnSerPheMetMetHisGlnIleArgLysMetValGlyLeuValValAlaIleValLysGlyTyrAlaProGluSerValLeuGluArgSerTrpGlyThrGluLysValAspValProLysAlaProGlyLeuGlyLeuValLeuGluArgValHisPheGluLysTyrAsnGlnArgPheGlyAsnAspGlyLeuHisGluProLeuAspTrpAlaGlnGluGluGlyLysValAlaAlaPheLysGluGluHisIleTyrProThrIleIleGlyThrGluArgAspGluArgSerMetAlaGlnTrpLeuSerThrLeuProIleHisAsnPheSerAlaThrAlaLeuThrAlaGlyGlyThrGlyAlaLysValProSerProLeuGluGlySerGluGlyAspGlyAspThrAspTer" }, "referenceSequence": "http://reg.genome.network/refseq/RS698838", "MANE": { "maneVersion": "1.3", "maneStatus": "MANE Select", "nucleotide": { "Ensembl": { "hgvs": "ENST00000376649.8:c.482G>A" }, "RefSeq": { "hgvs": "NM_025215.6:c.482G>A" } }, "protein": { "Ensembl": { "hgvs": "ENSP00000365837.3:p.Trp161Ter" }, "RefSeq": { "hgvs": "NP_079491.2:p.Trp161Ter" } } } } ], "type": "nucleotide" }