HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122472369_122472371del , CM000672.2:g.122472369_122472371del | GRCh38 |
NC_000010.10:g.124231885_124231887del , CM000672.1:g.124231885_124231887del | GRCh37 |
NC_000010.9:g.124221875_124221877del | NCBI36 |
NG_011554.1:g.15845_15847del |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.472+10245_472+10247del MANE Select | ENSP00000357980.3:n.472+10245_472+10247del | |
ENST00000648167.1:c.154+13660_154+13662del | ENSP00000498033.1:n.154+13660_154+13662del | |
ENST00000368984.7:c.472+10245_472+10247del | ENSP00000357980.3:n.472+10245_472+10247del | |
NM_002775.4:c.472+10245_472+10247del | NP_002766.1:n.472+10245_472+10247del | |
NM_002775.5:c.472+10245_472+10247del MANE Select | NP_002766.1:n.472+10245_472+10247del |