HGVS | Genome Assembly |
---|---|
NC_000011.10:g.124873016_124873017dup , CM000673.2:g.124873016_124873017dup | GRCh38 |
NC_000011.9:g.124742912_124742913dup , CM000673.1:g.124742912_124742913dup | GRCh37 |
NC_000011.8:g.124248122_124248123dup | NCBI36 |
NG_016214.1:g.12608_12609dup |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000397801.6:c.1463_1464dup MANE Select | ENSP00000380903.1:p.Gln489GlyfsTer? | |
ENST00000397801.5:c.1463_1464dup | ENSP00000380903.1:p.Gln489GlyfsTer? | |
ENST00000538940.5:c.1397_1398dup | ENSP00000441797.1:p.Gln467GlyfsTer? | |
NM_022370.3:c.1463_1464dup | NP_071765.2:p.Gln489GlyfsTer? | |
XM_011542953.1:c.2435_2436dup | XP_011541255.1:p.Gln813GlyfsTer? | |
XM_017018122.1:c.1397_1398dup | XP_016873611.1:p.Gln467GlyfsTer? | |
NM_022370.4:c.1463_1464dup MANE Select | NP_071765.2:p.Gln489GlyfsTer? |