gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183239423_183239424del , CM000663.2:g.183239423_183239424del | GRCh38 |
| NC_000001.10:g.183208558_183208559del , CM000663.1:g.183208558_183208559del | GRCh37 |
| NC_000001.9:g.181475181_181475182del | NCBI36 |
| NG_007079.2:g.58160_58161del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264144.5:c.2929_2930del MANE Select | ENSP00000264144.4:p.Ser977LeufsTer11 | |
| ENST00000264144.4:c.2929_2930del | ENSP00000264144.4:p.Ser977LeufsTer11 | |
| ENST00000493293.5:c.2929_2930del | ENSP00000432063.1:p.Ser977LeufsTer11 | |
| NM_005562.2:c.2929_2930del | NP_005553.2:p.Ser977LeufsTer11 | |
| NM_018891.2:c.2929_2930del | NP_061486.2:p.Ser977LeufsTer11 | |
| NM_005562.3:c.2929_2930del MANE Select | NP_005553.2:p.Ser977LeufsTer11 | |
| NM_018891.3:c.2929_2930del | NP_061486.2:p.Ser977LeufsTer11 |