HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000498014.1:p.[Glu2231Arg;Asp2233del;Gln2235_Ser2237delinsThrAsn;Ile2239_Asp2248delinsAlaAlaLysSerMetIleSerPheCysGly;Phe2250_Gln2256delinsLysThrSerSerMet;Lys2258_Arg2260del] |
CA645535844
ENST00000648266.1:c.6690_6691insAG
|