gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00005825 (MID)
Exomes Max Group AF
0.00006099 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.44827462dup , CM000663.2:g.44827462dup | GRCh38 |
| NC_000001.10:g.45293134dup , CM000663.1:g.45293134dup | GRCh37 |
| NC_000001.9:g.45065721dup | NCBI36 |
| NG_013369.1:g.20487dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372192.4:c.2315dup MANE Select | ENSP00000361266.3:p.Pro773ThrfsTer25 | |
| ENST00000372192.3:c.2315dup | ENSP00000361266.3:p.Pro773ThrfsTer25 | |
| ENST00000447098.6:c.2315dup | ENSP00000389703.2:p.Pro773ThrfsTer25 | |
| NM_001166292.1:c.2315dup | NP_001159764.1:p.Pro773ThrfsTer25 | |
| NM_003738.4:c.2315dup | NP_003729.3:p.Pro773ThrfsTer25 | |
| NM_003738.5:c.2315dup MANE Select | NP_003729.3:p.Pro773ThrfsTer25 | |
| NM_001166292.2:c.2315dup | NP_001159764.1:p.Pro773ThrfsTer25 |