HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000501833.1:p.[Val450Ala;Thr452_Ser453delinsValPro;Arg454_Gly455insPro;Gln456_Glu457delinsGlyThr;Gln459_Gly470delinsValSerGlyAlaValAlaAlaHisValTrpAlaLeuLeu;Cys472_Ser473delinsGlnArg;Asn475_Glu476del;Tyr478_His479delinsPro] |
CA2692518235
ENST00000675090.1:c.1347_1348del
|