gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Exomes Max Group AF
0.0000031 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5694398dup , CM000666.2:g.5694398dup | GRCh38 |
| NC_000004.11:g.5696125dup , CM000666.1:g.5696125dup | GRCh37 |
| NC_000004.10:g.5747026dup | NCBI36 |
| NG_015821.1:g.20154dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344408.10:c.390dup MANE Select | ENSP00000342144.5:p.Ile131TyrfsTer6 | |
| ENST00000310917.6:c.150dup | ENSP00000311683.2:p.Ile51TyrfsTer6 | |
| ENST00000344408.9:c.390dup | ENSP00000342144.5:p.Ile131TyrfsTer6 | |
| ENST00000475313.5:c.150dup | ENSP00000431981.1:p.Ile51TyrfsTer6 | |
| ENST00000509670.1:c.150dup | ENSP00000423876.1:p.Ile51TyrfsTer6 | |
| NM_001166136.1:c.150dup | NP_001159608.1:p.Ile51TyrfsTer6 | |
| NM_147127.4:c.390dup | NP_667338.3:p.Ile131TyrfsTer6 | |
| XM_011513392.1:c.390dup | XP_011511694.1:p.Ile131TyrfsTer6 | |
| XM_011513393.1:c.390dup | XP_011511695.1:p.Ile131TyrfsTer6 | |
| XM_011513394.1:c.150dup | XP_011511696.1:p.Ile51TyrfsTer6 | |
| XM_017007736.1:c.150dup | XP_016863225.1:p.Ile51TyrfsTer6 | |
| XM_017007737.1:c.150dup | XP_016863226.1:p.Ile51TyrfsTer6 | |
| XM_017007738.1:c.390dup | XP_016863227.1:p.Ile131TyrfsTer6 | |
| XM_017007739.1:c.-1283dup | XP_016863228.1:n.-1283dup | |
| XM_024453893.1:c.-1387dup | XP_024309661.1:n.-1387dup | |
| XR_001741141.1:n.455dup | ||
| NM_147127.5:c.390dup MANE Select | NP_667338.3:p.Ile131TyrfsTer6 | |
| NM_001166136.2:c.150dup | NP_001159608.1:p.Ile51TyrfsTer6 |