HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000518530.1:p.[Ala469_Trp476delinsProArgProArgProArgSerArg;Glu478_Glu479del;Glu482delinsLysPro;Arg484_Arg486delinsLysAlaGly;Pro488_Lys493delinsGlyAlaHisGlyGlySer;Glu495_Pro497delinsSerGlnArgSer;Pro498_Pro499insArg] |
CA645369557
ENST00000710881.1:c.1405delinsCCT
|