HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001166097.2:p.[Ile131delinsMetPheAlaLys;Lys134Ile;Leu136His;Arg138del;Leu140_Ile142delinsTyrVal;Glu144_Ser150delinsAsnThrCysArgSerArg;Gln152_Pro155delinsArgGlySerLeu;Thr157del;Ser159_Tyr161delinsLeuProAsn] |
CA1020435
NM_001172626.2:c.393del
|