gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002549 (AFR)
Genomes Max Group AF
0.00003249 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73621878del , CM000668.2:g.73621878del | GRCh38 |
| NC_000006.11:g.74331601del , CM000668.1:g.74331601del | GRCh37 |
| NC_000006.10:g.74388322del | NCBI36 |
| NG_008272.1:g.37138del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.905del MANE Select | ENSP00000348019.5:p.Asn302ThrfsTer8 | |
| ENST00000355773.5:c.905del | ENSP00000348019.5:p.Asn302ThrfsTer8 | |
| NM_012434.4:c.905del | NP_036566.1:p.Asn302ThrfsTer8 | |
| XM_005248710.2:c.854del | XP_005248767.1:p.Asn285ThrfsTer8 | |
| XM_005248711.1:c.707del | XP_005248768.1:p.Asn236ThrfsTer8 | |
| XM_011535750.1:c.905del | XP_011534052.1:p.Asn302ThrfsTer8 | |
| NM_012434.5:c.905del MANE Select | NP_036566.1:p.Asn302ThrfsTer8 | |
| NM_001382629.1:c.674del | NP_001369558.1:p.Asn225ThrfsTer8 | |
| NM_001382630.1:c.905del | NP_001369559.1:p.Asn302ThrfsTer8 | |
| NM_001382631.1:c.926del | NP_001369560.1:p.Asn309ThrfsTer8 | |
| NM_001382632.1:c.818del | NP_001369561.1:p.Asn273ThrfsTer8 | |
| NM_001382633.1:c.905del | NP_001369562.1:p.Asn302ThrfsTer8 | |
| NM_001382634.1:c.820-6430del | NP_001369563.1:n.820-6430del | |
| NM_001382635.1:c.902del | NP_001369564.1:p.Asn301ThrfsTer8 | |
| NM_001382636.1:c.587del | NP_001369565.1:p.Asn196ThrfsTer8 |