HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000500814.2:p.[Trp101delinsValGlyAspProArgTrpLysAspGlySerIleValIleHisAsnLeuAspTyrSerAspAsnGlyThrPheThrCysAspValLysAsnProProAspIleValGlyLysThrSerGlnValThrLeuTyrValPheGluLysValProThrArgTyrGlyValValLeuGlyAlaValIleGlyGlyValLeuGlyValValLeuLeuLeuLeuLeuLeuPheTyrValValArgTyrCysTrpLeuArgArgGlnAlaAlaLeuGlnArgArgLeuSerAlaMetGluLysGlyLysLeuHisLysProGlyLysAspAlaSerLysArgGlyArgGlnThrProValLeuTyrAlaMetLeuAspHisSerArgSerThrLysAlaValSerGluLysLysAlaLysGlyLeuGlyGluSerArgLysAspLysLysTer;Lys248_Asp311delinsTer] |