HGVS | Genome Assembly |
---|---|
NC_000023.11:g.153736147_153736149del , CM000685.2:g.153736147_153736149del | GRCh38 |
NC_000023.10:g.153001601_153001603del , CM000685.1:g.153001601_153001603del | GRCh37 |
NC_000023.9:g.152654795_152654797del | NCBI36 |
NG_009022.2:g.16280_16282del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000218104.6:c.1117_1119del MANE Select | ENSP00000218104.3:p.Lys373del | |
ENST00000218104.5:c.1117_1119del | ENSP00000218104.3:p.Lys373del | |
ENST00000443684.2:n.120_122del | ||
NM_000033.3:c.1117_1119del | NP_000024.2:p.Lys373del | |
XR_938507.1:n.1533_1535del | ||
XR_938507.2:n.1533_1535del | ||
NM_000033.4:c.1117_1119del MANE Select | NP_000024.2:p.Lys373del |