Canonical Allele Identifier:
CA836922215
Gene:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001171 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.24283933_24283935del , CM000669.2:g.24283933_24283935del | GRCh38 |
| NC_000007.13:g.24323552_24323554del , CM000669.1:g.24323552_24323554del | GRCh37 |
| NC_000007.12:g.24290077_24290079del | NCBI36 |
| NG_016148.1:g.4746_4748del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| XM_017012910.1:c.42-28233_42-28231del | XP_016868399.1:n.42-28233_42-28231del | |
| XM_017012911.1:c.42-28233_42-28231del | XP_016868400.1:n.42-28233_42-28231del | |
| XR_001745121.1:n.473+35425_473+35427del | ||
| XR_001745122.1:n.345-86903_345-86901del | ||
| XR_001745123.1:n.473+35425_473+35427del | ||
| XR_001745124.1:n.473+35425_473+35427del | ||
| XR_001745125.1:n.473+35425_473+35427del | ||
| XR_001745126.1:n.473+35425_473+35427del | ||
| XR_001745127.1:n.345-28233_345-28231del | ||
| XR_001745129.1:n.473+35425_473+35427del | ||
| XR_001745130.1:n.473+35425_473+35427del | ||
| XR_001745131.1:n.473+35425_473+35427del | ||
| XR_001745132.1:n.473+35425_473+35427del |