HGVS | Genome Assembly |
---|---|
NC_000017.11:g.4945841_4945843del , CM000679.2:g.4945841_4945843del | GRCh38 |
NC_000017.10:g.4849136_4849138del , CM000679.1:g.4849136_4849138del | GRCh37 |
NC_000017.9:g.4789881_4789883del | NCBI36 |
NG_012063.2:g.4751_4753del | |
NG_032945.1:g.8244_8246del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000225655.6:c.*57_*59del MANE Select | ENSP00000225655.5:n.*57_*59del | |
ENST00000225655.5:c.*57_*59del | ENSP00000225655.5:n.*57_*59del | |
ENST00000574872.1:c.*57_*59del | ENSP00000465019.1:n.*57_*59del | |
NM_005022.3:c.*57_*59del | NP_005013.1:n.*57_*59del | |
XM_017024761.1:c.*564_*566del | XP_016880250.1:n.*564_*566del | |
NM_001375991.1:c.*564_*566del | NP_001362920.1:n.*564_*566del | |
NM_005022.4:c.*57_*59del MANE Select | NP_005013.1:n.*57_*59del |