HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000341083.2:p.[Cys439_Asp449delinsValProLeuThrTrpThrThrHisProValIle;Thr451_Ile468delinsLeuHisPheGlnProTrpGlnLeuTrpLeuTrpAlaGlnGluSerProSerSer] |
CA2579335877
ENST00000342694.7:c.1315del
|