Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94043382_94043383del , CM000663.2:g.94043382_94043383del | GRCh38 |
| NC_000001.10:g.94508938_94508939del , CM000663.1:g.94508938_94508939del | GRCh37 |
| NC_000001.9:g.94281526_94281527del | NCBI36 |
| NG_009073.1:g.82770_82771del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370225.4:c.3146_3147del MANE Select | ENSP00000359245.3:p.Thr1049ArgfsTer8 | |
| ENST00000370225.3:c.3146_3147del | ENSP00000359245.3:p.Thr1049ArgfsTer8 | |
| ENST00000536513.5:c.-64-3291_-64-3290del | ENSP00000439707.2:n.-64-3291_-64-3290del | |
| NM_000350.2:c.3146_3147del | NP_000341.2:p.Thr1049ArgfsTer8 | |
| NM_000350.3:c.3146_3147del MANE Select | NP_000341.2:p.Thr1049ArgfsTer8 |