Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.29399229_29399231del , CM000685.2:g.29399229_29399231del | GRCh38 |
| NC_000023.10:g.29417346_29417348del , CM000685.1:g.29417346_29417348del | GRCh37 |
| NC_000023.9:g.29327267_29327269del | NCBI36 |
| NG_008292.1:g.816666_816668del | |
| NG_008292.2:g.816666_816668del |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014271.4:c.624_626del MANE Select | NP_055086.1:p.Glu208del |
| ENST00000378993.6:c.624_626del MANE Select | ENSP00000368278.1:p.Glu208del |
| NM_014271.3:c.624_626del | NP_055086.1:p.Glu208del |
| ENST00000378993.5:c.624_626del | ENSP00000368278.1:p.Glu208del |
| XM_005274441.1:c.624_626del | XP_005274498.1:p.Glu208del |
| XM_011545445.1:c.624_626del | XP_011543747.1:p.Glu208del |
| XM_017029240.1:c.624_626del | XP_016884729.1:p.Glu208del |
| XM_017029241.1:c.246_248del | XP_016884730.1:p.Glu82del |