HGVS (amino-acid) | Transcript change |
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ENSP00000489559.1:p.[Arg53delinsGlyAlaGluLeuGlyAlaAlaGlnLeuLeuLeuProProGlnGluGlySerSerAlaAlaIleAlaTer;Ter76_Thr133delinsAlaGlyThrAlaArgLeuLeuGlnGluGlyProArgGlyProGluGluAlaSerGlnThrProGluSerGlyLeuAlaSerValProGlnSerGlnArgGlyLeuGlnProProAlaProAlaHisValGlyAlaProAlaGlyCysThrLeuTrpAlaLeuProLeuThrProProProLeuAlaAlaArgLysProProArgHisTrpLeuProLysAlaAlaProValValHisTrpAlaGlyArgAlaArgLeuSerValAsnGlyCysTer] |