HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000518530.1:p.[Ala470_Trp476delinsArgProArgProArgSerArg;Glu478_Glu479del;Glu482delinsLysPro;Arg484_Arg486delinsLysAlaGly;Pro488_Lys493delinsGlyAlaHisGlyGlySer;Glu495_Pro497delinsSerGlnArgSer;Pro498_Pro499insArg] |
CA2499221141
ENST00000710881.1:c.1406_1407insTC
|