HGVS | Genome Assembly |
---|---|
NC_000001.11:g.182586285_182586288dup , CM000663.2:g.182586285_182586288dup | GRCh38 |
NC_000001.10:g.182555420_182555423dup , CM000663.1:g.182555420_182555423dup | GRCh37 |
NC_000001.9:g.180822043_180822046dup | NCBI36 |
NG_009024.2:g.5687_5690dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367559.7:c.520_523dup MANE Select | ENSP00000356530.3:p.Ala175GlyfsTer4 | |
ENST00000539397.1:c.520_523dup | ENSP00000440844.1:p.Ala175GlyfsTer4 | |
NM_021133.3:c.520_523dup | NP_066956.1:p.Ala175GlyfsTer4 | |
XM_005245411.2:c.520_523dup | XP_005245468.1:p.Ala175GlyfsTer4 | |
XR_001737359.1:n.803_806dup | ||
XR_001737360.1:n.803_806dup | ||
NM_021133.4:c.520_523dup MANE Select | NP_066956.1:p.Ala175GlyfsTer4 |