HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000434702.1:p.[Leu44delinsSerSerGlyGlu;Arg46_Ser48delinsLeuGlnMetGluAspAspLeuVal;Thr50_Arg53delinsSerPheGlnLeuMetLeuCysValLeuAspTyrPheIleLysLeuSer] |
CA2695218229
ENST00000467505.5:c.130del
|