HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
NP_001166097.1:p.[Ile164delinsMetPheAlaLys;Lys167Ile;Leu169His;Arg171del;Leu173_Ile175delinsTyrVal;Glu177_Ser183delinsAsnThrCysArgSerArg;Gln185_Pro188delinsArgGlySerLeu;Thr190del;Ser192_Tyr194delinsLeuProAsn] |
CA1020435
NM_001172626.1:c.492del
|