HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4945825_4945826del , CM000679.2:g.4945825_4945826del | GRCh38 |
NC_000017.10:g.4849120_4849121del , CM000679.1:g.4849120_4849121del | GRCh37 |
NC_000017.9:g.4789865_4789866del | NCBI36 |
NG_012063.2:g.4735_4736del | |
NG_032945.1:g.8263_8264del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225655.6:c.*76_*77del MANE Select | ENSP00000225655.5:n.*76_*77del | |
ENST00000225655.5:c.*76_*77del | ENSP00000225655.5:n.*76_*77del | |
ENST00000574872.1:c.*76_*77del | ENSP00000465019.1:n.*76_*77del | |
NM_005022.3:c.*76_*77del | NP_005013.1:n.*76_*77del | |
XM_017024761.1:c.*583_*584del | XP_016880250.1:n.*583_*584del | |
NM_001375991.1:c.*583_*584del | NP_001362920.1:n.*583_*584del | |
NM_005022.4:c.*76_*77del MANE Select | NP_005013.1:n.*76_*77del |