HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000508018.1:p.[Glu117Val;Trp119_Ala127delinsGlnAlaAlaGlyGlyProGlyProLeu;Asp129_Ser138delinsValAlaValLeuArgPheProGluAla;Lys140del;Cys142_Cys143del;Ala145_Pro150delinsArgArgHisLeuArgAla] |
CA2664369165
ENST00000683189.1:c.350_360del
|