HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000513413.1:p.[Arg829del;Ter1044_Val1045insSerGluArgHisGluAlaLeuArgGluLeuMetAspLeuTyrLeuLysMetLysProValTrpArgSerSerCysProAlaLysGluCysProGluSerLeuCysGlnTyrSerPheAsnSerGlnArgPheAlaGluLeuLeuSerThrLysPheLysTyrArgTyrGluGlyLysIleThrAsnTyrPheHisLysThrLeuAlaHisValProGluIleIleGluArgAspGlySerIleGlyAlaTrpAlaSerGluGlyAsnGluSerGlyAsnLysLeuPheArgArgPheArgLysMetAsnAlaArgGlnSerLysCysTyrGluMetGluAspValLeuLysHisHisTrpLeuTyrThrSerLysTyrLeuGlnLysPheMetAsnAlaHisAsnAlaLeuLysThrSerGlyPheThrMetAsnProGlnAlaSerLeuGlyAspProLeuGlyIleGluAspSerLeuGluSerGlnAspSerMetGluPheTer] |