Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45990411_45990412insGATGGGGTGG , CM000683.2:g.45990411_45990412insGATGGGGTGG | GRCh38 |
| NC_000021.8:g.47410325_47410326insGATGGGGTGG , CM000683.1:g.47410325_47410326insGATGGGGTGG | GRCh37 |
| NC_000021.7:g.46234753_46234754insGATGGGGTGG | NCBI36 |
| NG_008674.1:g.13663_13664insGATGGGGTGG , LRG_475:g.13663_13664insGATGGGGTGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.991_992insGATGGGGTGG MANE Select | ENSP00000355180.3:p.Asp331GlyfsTer25 | |
| ENST00000361866.7:c.991_992insGATGGGGTGG | ENSP00000355180.3:p.Asp331GlyfsTer25 | |
| ENST00000612273.1:c.991_992insGATGGGGTGG | ENSP00000483630.1:p.Asp331GlyfsTer25 | |
| NM_001848.2:c.991_992insGATGGGGTGG , LRG_475t1:c.991_992insGATGGGGTGG | NP_001839.2:p.Asp331GlyfsTer25 | |
| NM_001848.3:c.991_992insGATGGGGTGG MANE Select | NP_001839.2:p.Asp331GlyfsTer25 |