HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000252444.6:p.[Val481del;Ser483_Tyr486delinsLeuHisArg;Phe488_Val495delinsProLeuLeuHisGlnProAla;Lys497_Leu500delinsGlyGlnGluAsp;Arg502_Ser503delinsAlaGlyPro;Tyr505_Ile509delinsArgValHisGlnProHis;Asn511Gln] |
CA16609812
ENST00000252444.10:c.1442_1443del
|