Linked Data
gnomAD v4:
17-4945817-AAAAAT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4945823_4945827del , CM000679.2:g.4945823_4945827del | GRCh38 |
| NC_000017.10:g.4849118_4849122del , CM000679.1:g.4849118_4849122del | GRCh37 |
| NC_000017.9:g.4789863_4789867del | NCBI36 |
| NG_012063.2:g.4733_4737del | |
| NG_032945.1:g.8265_8269del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225655.6:c.*78_*82del MANE Select | ENSP00000225655.5:n.*78_*82del | |
| ENST00000225655.5:c.*78_*82del | ENSP00000225655.5:n.*78_*82del | |
| ENST00000574872.1:c.*78_*82del | ENSP00000465019.1:n.*78_*82del | |
| NM_005022.3:c.*78_*82del | NP_005013.1:n.*78_*82del | |
| XM_017024761.1:c.*585_*589del | XP_016880250.1:n.*585_*589del | |
| NM_001375991.1:c.*585_*589del | NP_001362920.1:n.*585_*589del | |
| NM_005022.4:c.*78_*82del MANE Select | NP_005013.1:n.*78_*82del |