gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.0128611 (AFR)
Genomes Max Group AF
0.01244948 (AFR)
Exomes Max Group AF
0.01274279 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.45073448del , CM000669.2:g.45073448del | GRCh38 |
| NC_000007.13:g.45113047del , CM000669.1:g.45113047del | GRCh37 |
| NC_000007.12:g.45079572del | NCBI36 |
| NG_016295.1:g.78261del , LRG_664:g.78261del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258781.11:c.804-12del MANE Select | ENSP00000258781.7:n.804-12del | |
| ENST00000648329.1:c.*1592-12del | ENSP00000496916.1:n.*1592-12del | |
| ENST00000258781.10:c.804-12del | ENSP00000258781.6:n.804-12del | |
| ENST00000381112.7:c.867-12del | ENSP00000370503.3:n.867-12del | |
| ENST00000461377.5:n.1157-12del | ||
| ENST00000470837.1:n.447-12del | ||
| ENST00000474617.1:c.513-12del | ENSP00000419474.1:n.513-12del | |
| ENST00000475551.5:c.786-12del | ENSP00000417180.1:n.786-12del | |
| ENST00000477605.1:n.1139-12del | ||
| ENST00000478582.5:n.878-12del | ||
| ENST00000481194.1:n.3667del | ||
| ENST00000488727.5:c.746-12del | ENSP00000417251.1:n.746-12del | |
| ENST00000541586.5:c.630-12del | ENSP00000444725.1:n.630-12del | |
| ENST00000544363.5:c.531-12del | ENSP00000438035.1:n.531-12del | |
| NM_001029835.2:c.867-12del , LRG_664t1:c.867-12del | NP_001025006.1:n.867-12del | |
| NM_001167934.1:c.630-12del | NP_001161406.1:n.630-12del | |
| NM_001167935.1:c.531-12del | NP_001161407.1:n.531-12del | |
| NM_031443.3:c.804-12del , LRG_664t2:c.804-12del | NP_113631.1:n.804-12del | |
| NR_030770.1:n.886-12del | ||
| XM_006715785.2:c.693-12del | XP_006715848.1:n.693-12del | |
| XM_006715786.2:c.594-12del | XP_006715849.1:n.594-12del | |
| XM_011515561.1:c.990-12del | XP_011513863.1:n.990-12del | |
| XM_011515562.1:c.927-12del | XP_011513864.1:n.927-12del | |
| XM_011515563.1:c.816-12del | XP_011513865.1:n.816-12del | |
| XM_011515564.1:c.753-12del | XP_011513866.1:n.753-12del | |
| XR_428088.2:n.822-12del | ||
| NM_001363458.1:c.927-12del | NP_001350387.1:n.927-12del | |
| NM_001363459.1:c.753-12del | NP_001350388.1:n.753-12del | |
| XM_006715785.4:c.693-12del | XP_006715848.1:n.693-12del | |
| XM_006715786.3:c.594-12del | XP_006715849.1:n.594-12del | |
| XM_011515561.2:c.990-12del | XP_011513863.1:n.990-12del | |
| XM_011515563.3:c.816-12del | XP_011513865.1:n.816-12del | |
| XR_428088.3:n.842-12del | ||
| NM_001363458.2:c.927-12del | NP_001350387.1:n.927-12del | |
| NM_001363459.2:c.753-12del | NP_001350388.1:n.753-12del | |
| NM_031443.4:c.804-12del MANE Select | NP_113631.1:n.804-12del | |
| NR_030770.2:n.886-12del | ||
| NM_001167934.2:c.630-12del | NP_001161406.1:n.630-12del | |
| NM_001167935.2:c.531-12del | NP_001161407.1:n.531-12del |