HGVS | Genome Assembly |
---|---|
NC_000001.11:g.154571610_154571613dup , CM000663.2:g.154571610_154571613dup | GRCh38 |
NC_000001.10:g.154544086_154544089dup , CM000663.1:g.154544086_154544089dup | GRCh37 |
NC_000001.9:g.152810710_152810713dup | NCBI36 |
NG_008027.1:g.8830_8833dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000368476.4:c.787_790dup MANE Select | ENSP00000357461.3:p.Glu264GlyfsTer? | |
ENST00000636034.1:c.787_790dup | ENSP00000489703.1:p.Glu264GlyfsTer? | |
ENST00000637900.1:c.793_796dup | ENSP00000490474.1:p.Glu266GlyfsTer? | |
ENST00000368476.3:c.787_790dup | ENSP00000357461.3:p.Glu264GlyfsTer? | |
NM_000748.2:c.787_790dup | NP_000739.1:p.Glu264GlyfsTer? | |
XM_017000180.2:c.277_280dup | XP_016855669.1:p.Glu94GlyfsTer? | |
XR_001736952.2:n.1039_1042dup | ||
NM_000748.3:c.787_790dup MANE Select | NP_000739.1:p.Glu264GlyfsTer? |