Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240869249_240869253delinsAGA , CM000664.2:g.240869249_240869253delinsAGA | GRCh38 |
| NC_000002.11:g.241808666_241808670delinsAGA , CM000664.1:g.241808666_241808670delinsAGA | GRCh37 |
| NC_000002.10:g.241457339_241457343delinsAGA | NCBI36 |
| NG_008005.1:g.5505_5509delinsAGA |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000307503.4:c.245_249delinsAGA MANE Select | ENSP00000302620.3:p.Gly82GlufsTer? | |
| ENST00000307503.3:c.245_249delinsAGA | ENSP00000302620.3:p.Gly82GlufsTer? | |
| ENST00000472436.1:n.265_269delinsAGA | ||
| NM_000030.2:c.245_249delinsAGA | NP_000021.1:p.Gly82GlufsTer? | |
| XR_924060.1:n.405+980_405+984delinsTCT | ||
| NM_000030.3:c.245_249delinsAGA MANE Select | NP_000021.1:p.Gly82GlufsTer? |