Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945857_4945858del , CM000679.2:g.4945857_4945858del | GRCh38 |
| NC_000017.10:g.4849152_4849153del , CM000679.1:g.4849152_4849153del | GRCh37 |
| NC_000017.9:g.4789897_4789898del | NCBI36 |
| NG_012063.2:g.4767_4768del | |
| NG_032945.1:g.8230_8231del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*43_*44del MANE Select | ENSP00000225655.5:n.*43_*44del | |
| ENST00000225655.5:c.*43_*44del | ENSP00000225655.5:n.*43_*44del | |
| ENST00000574872.1:c.*43_*44del | ENSP00000465019.1:n.*43_*44del | |
| NM_005022.3:c.*43_*44del | NP_005013.1:n.*43_*44del | |
| XM_017024761.1:c.*550_*551del | XP_016880250.1:n.*550_*551del | |
| NM_001375991.1:c.*550_*551del | NP_001362920.1:n.*550_*551del | |
| NM_005022.4:c.*43_*44del MANE Select | NP_005013.1:n.*43_*44del |