gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.46673233 (EAS)
Genomes Max Group AF
0.62641225 (EAS)
Exomes Max Group AF
0.43452613 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.214728552dup , CM000664.2:g.214728552dup | GRCh38 |
| NC_000002.11:g.215593276dup , CM000664.1:g.215593276dup | GRCh37 |
| NC_000002.10:g.215301521dup | NCBI36 |
| NG_012047.2:g.86167dup | |
| NG_012047.3:g.86174dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260947.9:c.*138dup MANE Select | ENSP00000260947.4:n.*138dup | |
| ENST00000260947.8:c.*138dup | ENSP00000260947.4:n.*138dup | |
| ENST00000471590.5:n.807dup | ||
| ENST00000613374.4:c.*138dup | ENSP00000484464.1:n.*138dup | |
| ENST00000613706.4:c.*138dup | ENSP00000484976.1:n.*138dup | |
| ENST00000617164.4:c.*138dup | ENSP00000480470.1:n.*138dup | |
| ENST00000619009.4:c.*138dup | ENSP00000482293.1:n.*138dup | |
| NM_000465.3:c.*138dup | NP_000456.2:n.*138dup | |
| NM_001282543.1:c.*138dup | NP_001269472.1:n.*138dup | |
| NM_001282545.1:c.*138dup | NP_001269474.1:n.*138dup | |
| NM_001282548.1:c.*138dup | NP_001269477.1:n.*138dup | |
| NM_001282549.1:c.*138dup | NP_001269478.1:n.*138dup | |
| NR_104212.1:n.2465dup | ||
| NR_104215.1:n.2408dup | ||
| NR_104216.1:n.1664dup | ||
| XM_011511567.1:c.*138dup | XP_011509869.1:n.*138dup | |
| XM_017004613.1:c.*138dup | XP_016860102.1:n.*138dup | |
| NM_000465.4:c.*138dup MANE Select | NP_000456.2:n.*138dup | |
| NM_001282543.2:c.*138dup | NP_001269472.1:n.*138dup | |
| NM_001282545.2:c.*138dup | NP_001269474.1:n.*138dup | |
| NM_001282548.2:c.*138dup | NP_001269477.1:n.*138dup | |
| NM_001282549.2:c.*138dup | NP_001269478.1:n.*138dup | |
| NR_104212.2:n.2437dup | ||
| NR_104215.2:n.2380dup | ||
| NR_104216.2:n.1636dup |