Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.57562829_57562830insGTG , CM000682.2:g.57562829_57562830insGTG | GRCh38 |
| NC_000020.10:g.56137885_56137886insGTG , CM000682.1:g.56137885_56137886insGTG | GRCh37 |
| NC_000020.9:g.55571291_55571292insGTG | NCBI36 |
| NG_008205.1:g.6749_6750insGTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000319441.6:c.540_541insGTG MANE Select | ENSP00000319814.4:p.Val180_Leu181insVal | |
| ENST00000319441.5:c.540_541insGTG | ENSP00000319814.4:p.Val180_Leu181insVal | |
| ENST00000467047.1:n.1750_1751insGTG | ||
| ENST00000498194.1:n.482_483insGTG | ||
| NM_002591.3:c.540_541insGTG | NP_002582.3:p.Val180_Leu181insVal | |
| XM_011528839.1:c.144_145insGTG | XP_011527141.1:p.Val48_Leu49insVal | |
| XM_024451888.1:c.144_145insGTG | XP_024307656.1:p.Val48_Leu49insVal | |
| NM_002591.4:c.540_541insGTG MANE Select | NP_002582.3:p.Val180_Leu181insVal |