gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005381 (NFE)
Genomes Max Group AF
0.00006804 (NFE)
Exomes Max Group AF
0.00004987 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133459039dup , CM000671.2:g.133459039dup | GRCh38 |
| NC_000009.10:g.135313982dup | NCBI36 |
| NG_011934.2:g.49701dup , LRG_544:g.49701dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355699.7:c.3975dup MANE Select | ENSP00000347927.2:p.Glu1326ArgfsTer6 | |
| ENST00000355699.6:c.3975dup | ENSP00000347927.2:p.Glu1326ArgfsTer6 | |
| ENST00000356589.6:c.3882dup | ENSP00000348997.2:p.Glu1295ArgfsTer6 | |
| ENST00000371910.1:c.531dup | ENSP00000360978.1:p.Glu178ArgfsTer6 | |
| ENST00000371916.5:c.*1444dup | ENSP00000360984.2:n.*1444dup | |
| ENST00000371929.7:c.4143dup | ENSP00000360997.3:p.Glu1382ArgfsTer6 | |
| ENST00000485925.5:n.2606dup | ||
| NM_139025.4:c.4143dup , LRG_544t1:c.4143dup | NP_620594.1:p.Glu1382ArgfsTer6 | |
| NM_139026.4:c.3882dup | NP_620595.1:p.Glu1295ArgfsTer6 | |
| NM_139027.4:c.3975dup | NP_620596.2:p.Glu1326ArgfsTer6 | |
| NR_024514.2:n.2625dup | ||
| XM_011518174.1:c.3753dup | XP_011516476.1:p.Glu1252ArgfsTer6 | |
| XM_011518176.1:c.3159dup | XP_011516478.1:p.Glu1054ArgfsTer6 | |
| XM_011518177.1:c.3153dup | XP_011516479.1:p.Glu1052ArgfsTer6 | |
| XM_011518178.1:c.2808dup | XP_011516480.1:p.Glu937ArgfsTer6 | |
| XM_011518179.1:c.2808dup | XP_011516481.1:p.Glu937ArgfsTer6 | |
| XM_011518180.1:c.2409dup | XP_011516482.1:p.Glu804ArgfsTer6 | |
| XM_011518176.3:c.3159dup | XP_011516478.1:p.Glu1054ArgfsTer6 | |
| XM_011518178.2:c.2808dup | XP_011516480.1:p.Glu937ArgfsTer6 | |
| XM_017014232.1:c.4131dup | XP_016869721.1:p.Glu1378ArgfsTer6 | |
| XM_017014233.1:c.3753dup | XP_016869722.1:p.Glu1252ArgfsTer6 | |
| XM_017014234.2:c.3153dup | XP_016869723.1:p.Glu1052ArgfsTer6 | |
| NM_139026.5:c.3882dup | NP_620595.1:p.Glu1295ArgfsTer6 | |
| NM_139027.5:c.3975dup | NP_620596.2:p.Glu1326ArgfsTer6 | |
| NM_139025.5:c.4143dup | NP_620594.1:p.Glu1382ArgfsTer6 | |
| NM_139026.6:c.3882dup | NP_620595.1:p.Glu1295ArgfsTer6 | |
| NM_139027.6:c.3975dup MANE Select | NP_620596.2:p.Glu1326ArgfsTer6 | |
| NR_024514.3:n.2627dup |