gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Genomes Max Group AF
0.00000489 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75004851del , CM000676.2:g.75004851del | GRCh38 |
| NC_000014.8:g.75471554del , CM000676.1:g.75471554del | GRCh37 |
| NC_000014.7:g.74541307del | NCBI36 |
| NG_013333.1:g.6943del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.548del MANE Select | ENSP00000266126.5:p.Arg183GlnfsTer9 | |
| ENST00000266126.9:c.548del | ENSP00000266126.5:p.Arg183GlnfsTer9 | |
| ENST00000553401.5:c.521del | ENSP00000451681.1:p.Arg174GlnfsTer9 | |
| ENST00000553539.1:n.843del | ||
| ENST00000555522.1:n.606del | ||
| ENST00000556028.5:c.548del | ENSP00000452311.1:p.Arg183GlnfsTer9 | |
| NM_014239.3:c.548del | NP_055054.1:p.Arg183GlnfsTer9 | |
| NM_014239.4:c.548del MANE Select | NP_055054.1:p.Arg183GlnfsTer9 |