gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006565 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00006241 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.73638492del , CM000668.2:g.73638492del | GRCh38 |
| NC_000006.11:g.74348215del , CM000668.1:g.74348215del | GRCh37 |
| NC_000006.10:g.74404936del | NCBI36 |
| NG_008272.1:g.20523del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355773.6:c.533del MANE Select | ENSP00000348019.5:p.Thr178AsnfsTer? | |
| ENST00000355773.5:c.533del | ENSP00000348019.5:p.Thr178AsnfsTer? | |
| ENST00000481996.1:n.299del | ||
| NM_012434.4:c.533del | NP_036566.1:p.Thr178AsnfsTer? | |
| XM_005248710.2:c.482del | XP_005248767.1:p.Thr161AsnfsTer? | |
| XM_005248711.1:c.335del | XP_005248768.1:p.Thr112AsnfsTer? | |
| XM_011535750.1:c.533del | XP_011534052.1:p.Thr178AsnfsTer? | |
| XM_011535751.1:c.533del | XP_011534053.1:p.Thr178AsnfsTer? | |
| NM_012434.5:c.533del MANE Select | NP_036566.1:p.Thr178AsnfsTer? | |
| NM_001382629.1:c.302del | NP_001369558.1:p.Thr101AsnfsTer? | |
| NM_001382630.1:c.533del | NP_001369559.1:p.Thr178AsnfsTer? | |
| NM_001382631.1:c.554del | NP_001369560.1:p.Thr185AsnfsTer? | |
| NM_001382632.1:c.533del | NP_001369561.1:p.Thr178AsnfsTer? | |
| NM_001382633.1:c.533del | NP_001369562.1:p.Thr178AsnfsTer? | |
| NM_001382634.1:c.533del | NP_001369563.1:p.Thr178AsnfsTer? | |
| NM_001382635.1:c.533del | NP_001369564.1:p.Thr178AsnfsTer? | |
| NM_001382636.1:c.302del | NP_001369565.1:p.Thr101AsnfsTer? |