HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000514757.1:p.[Asn247_Leu250delinsGlnAspAlaLys;Lys252_Pro266delinsGlyGlnAsnValSerLeuLeuGlyLysTyrIleLeuHisThrArgThrArg;Pro268_Thr271delinsAsnLeuArgLys;Glu273Arg;Val275_Glu276del] |
CA2573053369
ENST00000700021.1:c.739_740del
|