HGVS | Genome Assembly |
---|---|
NC_000004.12:g.42963184_42963190del , CM000666.2:g.42963184_42963190del | GRCh38 |
NC_000004.11:g.42965201_42965207del , CM000666.1:g.42965201_42965207del | GRCh37 |
NC_000004.10:g.42659958_42659964del | NCBI36 |
NG_027718.1:g.74919_74925del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000399770.3:c.627+50_627+56del MANE Select | ENSP00000382670.2:n.627+50_627+56del | |
ENST00000399770.2:c.627+50_627+56del | ENSP00000382670.2:n.627+50_627+56del | |
NM_001080476.2:c.627+50_627+56del | NP_001073945.1:n.627+50_627+56del | |
XM_011513691.1:c.264+50_264+56del | XP_011511993.1:n.264+50_264+56del | |
NM_001080476.3:c.627+50_627+56del MANE Select | NP_001073945.1:n.627+50_627+56del |