gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001748 (AFR)
Genomes Max Group AF
0.0000325 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.28405927del , CM000679.2:g.28405927del | GRCh38 |
| NC_000017.10:g.26732945del , CM000679.1:g.26732945del | GRCh37 |
| NC_000017.9:g.23757072del | NCBI36 |
| NG_013306.1:g.5290del , LRG_183:g.5290del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000612814.5:c.194del MANE Select | ENSP00000480703.1:p.Gly65AlafsTer25 | |
| ENST00000581516.1:c.-29del | ENSP00000462942.1:n.-29del | |
| ENST00000582590.1:n.248del | ||
| ENST00000584426.1:c.-36-453del | ENSP00000467416.1:n.-36-453del | |
| ENST00000584995.5:c.-29del | ENSP00000464190.1:n.-29del | |
| ENST00000612814.4:c.194del | ENSP00000480703.1:p.Gly65AlafsTer25 | |
| ENST00000618626.1:c.194del | ENSP00000483652.1:p.Gly65AlafsTer25 | |
| NM_001242366.2:c.194del | NP_001229295.1:p.Gly65AlafsTer25 | |
| NM_080669.5:c.194del | NP_542400.2:p.Gly65AlafsTer25 | |
| XM_005277786.2:c.194del | XP_005277843.1:p.Gly65AlafsTer25 | |
| XR_934643.1:n.89+476del | ||
| XM_005277786.3:c.194del | XP_005277843.1:p.Gly65AlafsTer25 | |
| XM_017024110.1:c.-29del | XP_016879599.1:n.-29del | |
| NM_080669.6:c.194del MANE Select | NP_542400.2:p.Gly65AlafsTer25 | |
| NM_001242366.3:c.194del | NP_001229295.1:p.Gly65AlafsTer25 |