HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000481090.1:p.[Thr374_Ala375delinsHisCys;Ser377_Asn380delinsValLeuTrpLys;Ser382_Ala390delinsGluGlnArgArgProGlyGlyTrpSer;Ser393_Lys402delinsValProGluProProGlyValGlyProGluGlu] |
CA2215894525
ENST00000611258.4:c.1118dup
|