HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000297494.3:p.[Met514delinsAsnGlyGlu;Lys516_Thr528delinsSerGluGlyAspAsnProValTrpLeuArgAspArgPro;Arg530_Tyr534delinsProGluLeuArgThr;Gln536_Arg540delinsAlaGlyGluThr;Phe542_Arg543delinsPro] |
CA2579063487
ENST00000297494.8:c.1540dup
|