HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000349297.5:p.[Leu515Thr;Ser517_Leu521delinsGlnArgProGlu;Gly523_His526delinsGlnArgThrCys;Glu528_Arg531delinsProGlyValGlu;Gly533_Leu535delinsGluTrpArg;Val537_Ala544delinsGlySerThrGlySerGlyAlaValCys] |
CA2580094830
ENST00000356839.10:c.1542_1543insA
|