HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000500585.1:p.[Ala506_Trp513delinsProArgProArgProArgSerArg;Glu515_Glu516del;Glu519delinsLysPro;Arg521_Arg523delinsLysAlaGly;Pro525_Lys530delinsGlyAlaHisGlyGlySer;Glu532_Pro534delinsSerGlnArgSer;Pro535_Pro536insArg] |
CA645369557
ENST00000672304.1:c.1516delinsCCT
|