HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000377899.2:p.[Ala469_Trp476delinsProArgProArgProArgSerArg;Glu478_Glu479del;Glu482delinsLysPro;Arg484_Arg486delinsLysAlaGly;Pro488_Lys493delinsGlyAlaHisGlyGlySer;Glu495_Pro497delinsSerGlnArgSer;Pro498_Pro499insArg] |
CA645369557
ENST00000394374.6:c.1405delinsCCT
|