Linked Data
gnomAD v4:
8-16993069-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993070del , CM000670.2:g.16993070del | GRCh38 |
| NC_000008.10:g.16850579del , CM000670.1:g.16850579del | GRCh37 |
| NC_000008.9:g.16894950del | NCBI36 |
| NG_015978.1:g.14096del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.*2del MANE Select | ENSP00000180166.5:n.*2del | |
| ENST00000180166.5:c.*2del | ENSP00000180166.5:n.*2del | |
| ENST00000519941.1:c.342del | ||
| NM_019851.2:c.*2del | NP_062825.1:n.*2del | |
| NM_019851.3:c.*2del MANE Select | NP_062825.1:n.*2del |