HGVS | Genome Assembly |
---|---|
NC_000022.11:g.27750619dup , CM000684.2:g.27750619dup | GRCh38 |
NC_000022.10:g.28146607dup , CM000684.1:g.28146607dup | GRCh37 |
NC_000022.9:g.26476607dup | NCBI36 |
NG_023258.1:g.55880dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703102.1:n.784dup | ||
ENST00000302326.5:c.*296dup MANE Select | ENSP00000304956.4:n.*296dup | |
ENST00000302326.4:c.*296dup | ENSP00000304956.4:n.*296dup | |
ENST00000424656.1:c.455+157dup | ||
NM_002430.2:c.*296dup | NP_002421.3:n.*296dup | |
NM_002430.3:c.*296dup MANE Select | NP_002421.3:n.*296dup |