HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000413944.2:p.[Ala465_Trp471delinsArgProArgProArgSerArg;Glu473_Glu474del;Glu477delinsLysPro;Arg479_Arg481delinsLysAlaGly;Pro483_Lys488delinsGlyAlaHisGlyGlySer;Glu490_Pro492delinsSerGlnArgSer;Pro493_Pro494insArg] |
CA2499221141
ENST00000440873.6:c.1391_1392insTC
|