HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000354499.2:p.[Ala175delinsIleThrGlnTyrGlnThrProLeuPheValTer;Ser187_Leu199delinsValLeuIleThrAlaValLeuLeuLeuLeuSerLeuProValLeuAlaAlaGlyIleThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Val201_Thr218delinsLeuAlaAlaGlyIleThrIleLeuLeuThrAspArgAsnLeuAsnThrThrPhePheAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Phe220_Glu242delinsAspProAlaGlyGlyGlyAspProIleLeuTyrGlnHisLeuPheTer;Tyr244_Arg514delinsIleLeuIleLeuProGlyPheGlyIleIleSerHisIleValThrTyrTyrSerGlyLysLysGluProPheGlyTyrIleGlyMetValTer] |