HGVS | Genome Assembly |
---|---|
NC_000007.14:g.95316770_95316772delinsCAA , CM000669.2:g.95316770_95316772delinsCAA | GRCh38 |
NC_000007.13:g.94946082_94946084delinsCAA , CM000669.1:g.94946082_94946084delinsCAA | GRCh37 |
NC_000007.12:g.94784018_94784020delinsCAA | NCBI36 |
NG_008779.1:g.12801_12803delinsTTG | |
NG_008779.2:g.12935_12937delinsTTG |
HGVS | Amino-acid change | |
---|---|---|
ENST00000222381.8:c.163_165delinsTTG MANE Select | ENSP00000222381.3:p.Leu55= | |
ENST00000222381.7:c.163_165delinsTTG | ENSP00000222381.3:p.Leu55= | |
ENST00000433729.1:c.163_165delinsTTG | ENSP00000407359.1:p.Leu55= | |
ENST00000470502.1:n.283_285delinsTTG | ||
NM_000446.5:c.163_165delinsTTG | NP_000437.3:p.Leu55= | |
NM_000446.6:c.163_165delinsTTG | NP_000437.3:p.Leu55= | |
NM_000446.7:c.163_165delinsTTG MANE Select | NP_000437.3:p.Leu55= |