Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071276del , CM000664.2:g.29071276del | GRCh38 |
| NC_000002.11:g.29294142del , CM000664.1:g.29294142del | GRCh37 |
| NC_000002.10:g.29147646del | NCBI36 |
| NG_021427.1:g.7988del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.2988del MANE Select | ENSP00000332809.4:p.Thr997ArgfsTer? | |
| ENST00000331664.5:c.2988del | ENSP00000332809.4:p.Thr997ArgfsTer? | |
| NM_001029883.2:c.2988del | NP_001025054.1:p.Thr997ArgfsTer? | |
| XM_011532826.1:c.2988del | XP_011531128.1:p.Thr997ArgfsTer? | |
| XR_939901.1:n.185+2109del | ||
| XR_939902.1:n.173+2121del | ||
| NM_001029883.3:c.2988del MANE Select | NP_001025054.1:p.Thr997ArgfsTer? |