Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8015618_8015619insAGA , CM000679.2:g.8015618_8015619insAGA | GRCh38 |
| NC_000017.10:g.7918936_7918937insAGA , CM000679.1:g.7918936_7918937insAGA | GRCh37 |
| NC_000017.9:g.7859661_7859662insAGA | NCBI36 |
| NG_009092.1:g.17949_17950insAGA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000254854.5:c.2944+116_2944+117insAGA MANE Select | ENSP00000254854.4:n.2944+116_2944+117insAGA | |
| ENST00000254854.4:c.2944+116_2944+117insAGA | ENSP00000254854.4:n.2944+116_2944+117insAGA | |
| NM_000180.3:c.2944+116_2944+117insAGA | NP_000171.1:n.2944+116_2944+117insAGA | |
| XM_011523816.1:c.2944+116_2944+117insAGA | XP_011522118.1:n.2944+116_2944+117insAGA | |
| NM_000180.4:c.2944+116_2944+117insAGA MANE Select | NP_000171.1:n.2944+116_2944+117insAGA |