HGVS (amino-acid) | Matching Registered Transcripts |
---|---|
ENSP00000344757.2:p.[Pro86_Tyr98delinsAlaArgMetAlaGlnLeuArgArgArgAlaAlaAlaLeu;Thr100_Thr105delinsAsnAlaAlaAlaTrpHis;Arg107_Arg113delinsProProHisProGlnLeuProSer] |
CA2497028737
ENST00000345392.2:c.254_255insC
CA2586965648
ENST00000345392.2:c.254dup
|