HGVS | Genome Assembly |
---|---|
NC_000001.11:g.183590670_183590672dup , CM000663.2:g.183590670_183590672dup | GRCh38 |
NC_000001.10:g.183559805_183559807dup , CM000663.1:g.183559805_183559807dup | GRCh37 |
NC_000001.9:g.181826428_181826430dup | NCBI36 |
NG_007267.1:g.4910_4912dup , LRG_88:g.4910_4912dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000697330.1:c.-31+168_-31+170dup (NCF2) | ENSP00000513258.1:n.-31+168_-31+170dup | |
ENST00000697353.1:n.34_36dup (NCF2) | ||
ENST00000367536.5:c.-31+168_-31+170dup (NCF2) | ENSP00000356506.1:n.-31+168_-31+170dup | |
ENST00000495321.1:n.234-7099_234-7097dup (SMG7) | ||
NM_001127651.2:c.-31+168_-31+170dup (NCF2) | NP_001121123.1:n.-31+168_-31+170dup | |
XM_011509580.1:c.-80_-78dup (NCF2) | XP_011507882.1:n.-80_-78dup | |
NM_001127651.3:c.-31+168_-31+170dup (NCF2) | NP_001121123.1:n.-31+168_-31+170dup |