HGVS | Genome Assembly |
---|---|
NC_000014.9:g.100883436del , CM000676.2:g.100883436del | GRCh38 |
NC_000014.8:g.101349773del , CM000676.1:g.101349773del | GRCh37 |
NC_000014.7:g.100419526del | NCBI36 |
NG_045001.1:g.6412del | |
NG_045000.5:g.52168del | |
NG_045000.6:g.52168del | |
NG_045001.2:g.25287del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649591.1:c.1353del MANE Select | ENSP00000497482.1:p.Tyr451Ter | |
ENST00000534062.1:c.1353del | ENSP00000435342.1:p.Tyr451Ter | |
NM_001134888.2:c.1353del | NP_001128360.1:p.Tyr451Ter | |
NM_001134888.3:c.1353del MANE Select | NP_001128360.1:p.Tyr451Ter |