HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000252444.6:p.[Arg164del;Asn166_Gln171delinsSerThrAlaAla;Trp173_Asp176delinsLeuSerSerGly;Gln178_Glu187delinsAlaMetAlaLysTrpThrAlaThrThrAla;Gly189_Cys190delinsThrSerLysAlaVal;Lys193Arg] |
CA10584800
ENST00000252444.10:c.490del
|