Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44293013_44293014del , CM000683.2:g.44293013_44293014del | GRCh38 |
| NC_000021.8:g.45712896_45712897del , CM000683.1:g.45712896_45712897del | GRCh37 |
| NC_000021.7:g.44537324_44537325del | NCBI36 |
| NG_009556.1:g.12134_12135del , LRG_18:g.12134_12135del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291582.6:c.1116_1117del MANE Select | ENSP00000291582.5:p.Ala373GlyfsTer? | |
| ENST00000291582.5:c.1116_1117del | ENSP00000291582.5:p.Ala373GlyfsTer? | |
| ENST00000337909.5:n.577_578del | ||
| ENST00000397994.8:n.577_578del | ||
| ENST00000527919.5:n.1846_1847del | ||
| ENST00000530812.5:n.2863_2864del | ||
| NM_000383.3:c.1116_1117del | NP_000374.1:p.Ala373GlyfsTer? | |
| XM_011529551.1:c.1113_1114del | XP_011527853.1:p.Ala372GlyfsTer? | |
| NM_000383.4:c.1116_1117del MANE Select | NP_000374.1:p.Ala373GlyfsTer? |