HGVS | Genome Assembly |
---|---|
NC_000010.11:g.122472407_122472412dup , CM000672.2:g.122472407_122472412dup | GRCh38 |
NC_000010.10:g.124231923_124231928dup , CM000672.1:g.124231923_124231928dup | GRCh37 |
NC_000010.9:g.124221913_124221918dup | NCBI36 |
NG_011554.1:g.15883_15888dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368984.8:c.472+10283_472+10288dup MANE Select | ENSP00000357980.3:n.472+10283_472+10288dup | |
ENST00000648167.1:c.154+13698_154+13703dup | ENSP00000498033.1:n.154+13698_154+13703dup | |
ENST00000368984.7:c.472+10283_472+10288dup | ENSP00000357980.3:n.472+10283_472+10288dup | |
NM_002775.4:c.472+10283_472+10288dup | NP_002766.1:n.472+10283_472+10288dup | |
NM_002775.5:c.472+10283_472+10288dup MANE Select | NP_002766.1:n.472+10283_472+10288dup |