gnomAD v4:
Joint Max Group AF
0.000033 (SAS)
Exomes Max Group AF
0.00005072 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.8101852_8101853insGG , CM000673.2:g.8101852_8101853insGG | GRCh38 |
| NC_000011.9:g.8123399_8123400insGG , CM000673.1:g.8123399_8123400insGG | GRCh37 |
| NC_000011.8:g.8079975_8079976insGG | NCBI36 |
| NG_029912.1:g.68220_68221insGG | |
| NG_030416.2:g.72191_72192insCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299506.3:c.*233_*234insGG (TUB) MANE Select | ENSP00000299506.3:n.*233_*234insGG | |
| ENST00000299506.2:c.*233_*234insGG (TUB) | ENSP00000299506.2:n.*233_*234insGG | |
| ENST00000305253.8:c.*233_*234insGG (TUB) | ENSP00000305426.4:n.*233_*234insGG | |
| NM_003320.4:c.*233_*234insGG (TUB) | NP_003311.2:n.*233_*234insGG | |
| NM_177972.2:c.*233_*234insGG (TUB) | NP_813977.1:n.*233_*234insGG | |
| XM_005253109.2:c.*233_*234insGG (TUB) | XP_005253166.1:n.*233_*234insGG | |
| XM_011520344.1:c.*233_*234insGG (TUB) | XP_011518646.1:n.*233_*234insGG | |
| XR_428851.2:n.1484-7694_1484-7693insCC (RIC3) | ||
| XR_930896.1:n.1546+5482_1546+5483insCC (RIC3) | ||
| XR_930900.1:n.1547-4131_1547-4130insCC (RIC3) | ||
| NR_144485.1:n.1519+5482_1519+5483insCC (RIC3) | ||
| XM_005253109.3:c.*233_*234insGG (TUB) | XP_005253166.1:n.*233_*234insGG | |
| XM_011520344.2:c.*233_*234insGG (TUB) | XP_011518646.1:n.*233_*234insGG | |
| XR_001747957.2:n.1335-7694_1335-7693insCC (RIC3) | ||
| XR_428851.4:n.1422-7694_1422-7693insCC (RIC3) | ||
| XR_930896.3:n.1484+5482_1484+5483insCC (RIC3) | ||
| XR_930900.3:n.1485-4131_1485-4130insCC (RIC3) | ||
| NM_177972.3:c.*233_*234insGG (TUB) MANE Select | NP_813977.1:n.*233_*234insGG | |
| NR_144485.2:n.1450+5482_1450+5483insCC (RIC3) | ||
| NM_003320.5:c.*233_*234insGG (TUB) | NP_003311.2:n.*233_*234insGG |