HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750789_27750793dup , CM000684.2:g.27750789_27750793dup | GRCh38 |
NC_000022.10:g.28146777_28146781dup , CM000684.1:g.28146777_28146781dup | GRCh37 |
NC_000022.9:g.26476777_26476781dup | NCBI36 |
NG_023258.1:g.55713_55717dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.617_621dup | ||
ENST00000302326.5:c.*129_*133dup MANE Select | ENSP00000304956.4:n.*129_*133dup | |
ENST00000302326.4:c.*129_*133dup | ENSP00000304956.4:n.*129_*133dup | |
ENST00000424656.1:c.445_449dup | ||
ENST00000497225.1:n.448_452dup | ||
NM_002430.2:c.*129_*133dup | NP_002421.3:n.*129_*133dup | |
NM_002430.3:c.*129_*133dup MANE Select | NP_002421.3:n.*129_*133dup |