HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000424977.1:p.[Ser18Gln;Thr20_Ser29delinsTyrLeuAlaAlaGlnProTrpProCysPheLeu;His31_Gln34delinsLeuIleProAsp;Gln36del;Gly38Trp;Ser40_Lys43delinsGlnArgHisGln;Arg45_Leu47delinsAlaGlnThr] |
CA2586964224
ENST00000508500.1:c.51dup
|