HGVS | Genome Assembly |
---|---|
NC_000003.12:g.87259679_87259682del , CM000665.2:g.87259679_87259682del | GRCh38 |
NG_008225.2:g.21909_21912del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000344265.8:c.*215_*218del | ENSP00000342931.3:n.*215_*218del | |
ENST00000350375.7:c.*215_*218del MANE Select | ENSP00000263781.2:n.*215_*218del | |
ENST00000350375.6:c.*215_*218del | ENSP00000263781.2:n.*215_*218del | |
NM_000306.3:c.*215_*218del | NP_000297.1:n.*215_*218del | |
NM_001122757.2:c.*215_*218del | NP_001116229.1:n.*215_*218del | |
NM_000306.4:c.*215_*218del MANE Select | NP_000297.1:n.*215_*218del | |
NM_001122757.3:c.*215_*218del | NP_001116229.1:n.*215_*218del |