HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000439721.2:p.[Leu280_Gln281delinsAlaAlaArg;Gln284_Gln287delinsLeuProAlaAlaAla;His290Leu;Ser292_Pro309delinsAlaAlaAlaHisAlaThrCysAlaGluProCysAspProGluProLeu] |
CA2739891747
ENST00000543427.5:c.838_839del
|