Linked Data
gnomAD v4:
17-42184529-CTAGGGAGACG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42184530_42184539del , CM000679.2:g.42184530_42184539del | GRCh38 |
| NC_000017.10:g.40336548_40336557del , CM000679.1:g.40336548_40336557del | GRCh37 |
| NC_000017.9:g.37590074_37590083del | NCBI36 |
| NG_011448.1:g.5914_5923del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000293330.1:c.22-11_22-2del MANE Select | ENSP00000293330.1:n.22-11_22-2del | |
| NM_001524.1:c.22-11_22-2del MANE Select | NP_001515.1:n.22-11_22-2del |