gnomAD v4:
Joint Max Group AF
0.00000429 (NFE)
Exomes Max Group AF
0.00000455 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.6956770_6956782del , CM000680.2:g.6956770_6956782del | GRCh38 |
| NC_000018.9:g.6956769_6956781del , CM000680.1:g.6956769_6956781del | GRCh37 |
| NC_000018.8:g.6946769_6946781del | NCBI36 |
| NG_034251.1:g.166035_166047del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389658.4:c.7965-15_7965-3del MANE Select | ENSP00000374309.3:n.7965-15_7965-3del | |
| ENST00000638611.1:c.324-15_324-3del | ENSP00000491821.1:n.324-15_324-3del | |
| ENST00000389658.3:c.7965-15_7965-3del | ENSP00000374309.3:n.7965-15_7965-3del | |
| ENST00000488064.5:n.1372-15_1372-3del | ||
| ENST00000488089.1:n.1542-15_1542-3del | ||
| ENST00000579014.5:n.8980-15_8980-3del | ||
| NM_005559.3:c.7965-15_7965-3del | NP_005550.2:n.7965-15_7965-3del | |
| NR_126040.1:n.1646_1658del | ||
| XM_011525655.1:c.7965-15_7965-3del | XP_011523957.1:n.7965-15_7965-3del | |
| XM_011525656.1:c.6393-15_6393-3del | XP_011523958.1:n.6393-15_6393-3del | |
| XM_011525655.2:c.7965-15_7965-3del | XP_011523957.1:n.7965-15_7965-3del | |
| XM_011525656.2:c.6393-15_6393-3del | XP_011523958.1:n.6393-15_6393-3del | |
| NM_005559.4:c.7965-15_7965-3del MANE Select | NP_005550.2:n.7965-15_7965-3del |