HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000437639.1:p.[Leu384del;Arg386_Lys391delinsTyrSerGlyArgThrAla;Arg393_Gly402delinsSerGlnGlyProSerTrpTrpIleLeu;Tyr405_Trp406delinsAlaSerCys;Asp408_Trp409delinsGlyLeuThr;Thr411delinsGluLeu;Ala413Pro] |
CA2499225322
ENST00000545707.5:c.1150_1151dup
|