gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41397841del , CM000681.2:g.41397841del | GRCh38 |
| NC_000019.9:g.41903746del , CM000681.1:g.41903746del | GRCh37 |
| NC_000019.8:g.46595586del | NCBI36 |
| NG_013004.1:g.5053del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.14del MANE Select | ENSP00000269980.2:p.Ile5ThrfsTer9 | |
| ENST00000269980.6:c.14del | ENSP00000269980.2:p.Ile5ThrfsTer9 | |
| ENST00000457836.6:c.14del | ENSP00000416000.2:p.Ile5ThrfsTer9 | |
| ENST00000538423.5:n.34del | ||
| ENST00000540732.3:c.211-12796del | ENSP00000443246.1:n.211-12796del | |
| ENST00000542943.5:c.14del | ENSP00000440345.1:p.Ile5ThrfsTer9 | |
| ENST00000595085.5:c.14del | ENSP00000471150.2:p.Ile5ThrfsTer9 | |
| ENST00000604424.1:n.351-12796del | ||
| NM_000709.3:c.14del | NP_000700.1:p.Ile5ThrfsTer9 | |
| NM_001164783.1:c.14del | NP_001158255.1:p.Ile5ThrfsTer9 | |
| NM_000709.4:c.14del MANE Select | NP_000700.1:p.Ile5ThrfsTer9 | |
| NM_001164783.2:c.14del | NP_001158255.1:p.Ile5ThrfsTer9 |