gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000484 (AFR)
Genomes Max Group AF
0.00000804 (AFR)
Exomes Max Group AF
0.00000473 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65557834del , CM000673.2:g.65557834del | GRCh38 |
| NC_000011.9:g.65325305del , CM000673.1:g.65325305del | GRCh37 |
| NC_000011.8:g.65081881del | NCBI36 |
| NG_016437.1:g.5401del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000526825.6:c.132del | ENSP00000435146.2:p.Pro45ArgfsTer25 | |
| ENST00000526927.6:c.132del | ENSP00000431219.2:p.Pro45ArgfsTer25 | |
| ENST00000530866.6:c.-19-117del | ENSP00000435276.2:n.-19-117del | |
| ENST00000689505.1:c.132del | ENSP00000510401.1:p.Pro45ArgfsTer25 | |
| ENST00000301873.11:c.132del MANE Select | ENSP00000301873.5:p.Pro45ArgfsTer25 | |
| ENST00000301873.9:c.132del | ENSP00000301873.5:p.Pro45ArgfsTer25 | |
| ENST00000322147.8:c.132del | ENSP00000326647.4:p.Pro45ArgfsTer25 | |
| ENST00000528516.5:c.132del | ENSP00000432350.1:p.Pro45ArgfsTer25 | |
| ENST00000530866.5:c.-19-117del | ENSP00000435276.1:n.-19-117del | |
| ENST00000536982.5:c.-2860del | ENSP00000441912.2:n.-2860del | |
| NM_001130144.2:c.132del | NP_001123616.1:p.Pro45ArgfsTer25 | |
| NM_001164266.1:c.-216del | NP_001157738.1:n.-216del | |
| NM_021070.4:c.132del | NP_066548.2:p.Pro45ArgfsTer25 | |
| XM_011545032.1:c.132del | XP_011543334.1:p.Pro45ArgfsTer25 | |
| XM_011545033.1:c.132del | XP_011543335.1:p.Pro45ArgfsTer25 | |
| XR_949928.1:n.532del | ||
| XM_011545032.2:c.132del | XP_011543334.1:p.Pro45ArgfsTer25 | |
| XM_011545033.3:c.132del | XP_011543335.1:p.Pro45ArgfsTer25 | |
| XM_017017737.2:c.132del | XP_016873226.1:p.Pro45ArgfsTer25 | |
| XR_001747875.2:n.555del | ||
| XR_949928.3:n.555del | ||
| NM_001130144.3:c.132del MANE Select | NP_001123616.1:p.Pro45ArgfsTer25 |