HGVS | Genome Assembly |
---|---|
NC_000024.10:g.2787375dup , CM000686.2:g.2787375dup | GRCh38 |
NC_000024.9:g.2655416dup , CM000686.1:g.2655416dup | GRCh37 |
NC_000024.8:g.2715416dup | NCBI36 |
NG_011751.1:g.5378dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000679518.1:n.106+12636dup | ||
ENST00000679825.1:n.487dup | ||
ENST00000680285.1:n.320-2374dup | ||
ENST00000680845.1:n.166-105dup | ||
ENST00000681787.1:n.106+12636dup | ||
ENST00000681940.1:n.106+12636dup | ||
ENST00000383070.2:c.230dup MANE Select | ENSP00000372547.1:p.Met78AspfsTer26 | |
ENST00000383070.1:c.230dup | ENSP00000372547.1:p.Met78AspfsTer26 | |
NM_003140.2:c.230dup | NP_003131.1:p.Met78AspfsTer26 | |
NM_003140.3:c.230dup MANE Select | NP_003131.1:p.Met78AspfsTer26 |