Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.73322552_73322555del , CM000677.2:g.73322552_73322555del | GRCh38 |
| NC_000015.9:g.73614893_73614896del , CM000677.1:g.73614893_73614896del | GRCh37 |
| NC_000015.8:g.71401946_71401949del | NCBI36 |
| NG_009063.1:g.51713_51716del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261917.4:c.3541_3544del MANE Select | ENSP00000261917.3:p.Thr1181LeufsTer? | |
| ENST00000261917.3:c.3541_3544del | ENSP00000261917.3:p.Thr1181LeufsTer? | |
| NM_005477.2:c.3541_3544del | NP_005468.1:p.Thr1181LeufsTer? | |
| XM_011521148.1:c.2323_2326del | XP_011519450.1:p.Thr775LeufsTer? | |
| XM_011521148.2:c.2323_2326del | XP_011519450.1:p.Thr775LeufsTer? | |
| NM_005477.3:c.3541_3544del MANE Select | NP_005468.1:p.Thr1181LeufsTer? |