gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00006688 (NFE)
Genomes Max Group AF
0.00001974 (NFE)
Exomes Max Group AF
0.00006747 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169140522dup , CM000664.2:g.169140522dup | GRCh38 |
| NC_000002.11:g.169997032dup , CM000664.1:g.169997032dup | GRCh37 |
| NC_000002.10:g.169705278dup | NCBI36 |
| NG_012634.1:g.227098dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.13139dup MANE Select | ENSP00000496870.1:p.Cys4381MetfsTer12 | |
| ENST00000649153.1:c.4009-905dup | ||
| ENST00000650252.1:c.2137-7dup | ENSP00000496887.1:n.2137-7dup | |
| ENST00000263816.7:c.13139dup | ENSP00000263816.3:p.Cys4381MetfsTer12 | |
| NM_004525.2:c.13139dup | NP_004516.2:p.Cys4381MetfsTer12 | |
| XM_011511183.1:c.13010dup | XP_011509485.1:p.Cys4338MetfsTer12 | |
| XM_011511184.1:c.10850dup | XP_011509486.1:p.Cys3618MetfsTer12 | |
| NM_004525.3:c.13139dup MANE Select | NP_004516.2:p.Cys4381MetfsTer12 | |
| XM_011511183.3:c.13010dup | XP_011509485.1:p.Cys4338MetfsTer12 | |
| XM_011511184.2:c.10850dup | XP_011509486.1:p.Cys3618MetfsTer12 |