HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000489407.2:p.[Leu505_Glu516delinsProGlyGluAlaAlaAlaGlyGlyGly;Ala519_Leu520delinsGly;Val522Arg;Ser524del;Pro527Arg;Gly529_Gly530delinsGlnProArg;Phe532_Ala533delinsArgArg;Arg534_Glu535insGlnLeuArgPro] |
CA2657583382
ENST00000445220.7:c.1513dup
|