HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000323571.7:p.[His164_Ala165delinsCysThr;Lys167_Ser174delinsSerSerCysGluAlaProThrPro;Ser176_Arg177delinsGlnVal;Pro179delinsArgArg;Ser181_Glu184delinsAlaLeuArgSer;Gln186_Ser187delinsArgAla;Arg189_Glu190delinsGlyLys;Glu192Arg] |
CA1018916397
ENST00000313949.11:c.487_488dup
|