SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44623992_44624009delinsCTGCCTCGCCTCCCAAAG , CM000682.2:g.44623992_44624009delinsCTGCCTCGCCTCCCAAAG | GRCh38 |
| NC_000020.10:g.43252633_43252650delinsCTGCCTCGCCTCCCAAAG , CM000682.1:g.43252633_43252650delinsCTGCCTCGCCTCCCAAAG | GRCh37 |
| NC_000020.9:g.42686047_42686064delinsCTGCCTCGCCTCCCAAAG | NCBI36 |
| NG_007385.1:g.32727_32744delinsCTTTGGGAGGCGAGGCAG , LRG_16:g.32727_32744delinsCTTTGGGAGGCGAGGCAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.697+193_697+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000536076.2:c.453+193_453+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512234.1:n.453+193_453+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000536532.6:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000440946.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000537820.2:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000441818.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000539235.6:c.219-931_219-914delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000446464.1:n.219-931_219-914delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695889.1:c.219-1079_219-1062delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512240.1:n.219-1079_219-1062delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000695890.1:n.2409+193_2409+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000695891.1:c.219-1079_219-1062delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512241.1:n.219-1079_219-1062delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000695927.1:c.684+193_684+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512270.1:n.684+193_684+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695949.1:c.603+193_603+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512281.1:n.603+193_603+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695957.1:c.*97+193_*97+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512286.1:n.*97+193_*97+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695991.1:c.217-1079_217-1062delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512314.1:n.217-1079_217-1062delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000695992.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512315.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695993.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512316.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695994.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512317.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695995.1:c.217-931_217-914delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512318.1:n.217-931_217-914delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000695996.1:n.677+193_677+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000695997.1:n.754_771delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696003.1:n.698+193_698+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696004.1:n.698+193_698+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696005.1:c.128+193_128+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696006.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512325.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696007.1:c.457+193_457+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512326.1:n.457+193_457+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696008.1:n.1954_1971delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696009.1:n.2149_2166delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696017.1:c.603+193_603+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512333.1:n.603+193_603+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696034.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512343.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696035.1:n.716+193_716+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696036.1:n.1296+193_1296+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696037.1:n.2283+193_2283+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696038.1:c.*352+193_*352+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512344.1:n.*352+193_*352+210delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000696039.1:n.894+193_894+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696058.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512361.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696059.1:c.*551+193_*551+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512362.1:n.*551+193_*551+210delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000696060.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512363.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696061.1:c.603+193_603+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512364.1:n.603+193_603+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696062.1:c.669+193_669+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512365.1:n.669+193_669+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696063.1:c.681+193_681+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512366.1:n.681+193_681+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696064.1:c.453+193_453+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512367.1:n.453+193_453+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696065.1:c.66-1079_66-1062delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512368.1:n.66-1079_66-1062delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696074.1:n.222+193_222+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696075.1:c.*576+193_*576+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512374.1:n.*576+193_*576+210delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000696076.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512375.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696077.1:c.603+193_603+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512376.1:n.603+193_603+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696078.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512377.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696079.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512378.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696080.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512379.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696081.1:n.725+193_725+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696082.1:c.684+193_684+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512380.1:n.684+193_684+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000696083.1:n.1487+193_1487+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696084.1:n.707+193_707+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000696104.1:c.363-1079_363-1062delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512399.1:n.363-1079_363-1062delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000696105.1:c.*147+193_*147+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000512400.1:n.*147+193_*147+210delinsCTTTGGGAGGCGAGGCAG... | |
| ENST00000372874.9:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) MANE Select | ENSP00000361965.4:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000372874.8:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000361965.4:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000372887.5:c.*16_*33delinsCTGCCTCGCCTCCCAAAG (PKIG) | ENSP00000361978.1:n.*16_*33delinsCTGCCTCGCCTCCCAAAG | |
| ENST00000464097.5:n.280+193_280+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000492931.5:n.690+193_690+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| ENST00000536532.5:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000440946.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000537820.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000441818.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| ENST00000539235.5:c.219-931_219-914delinsCTTTGGGAGGCGAGGCAG (ADA) | ENSP00000446464.1:n.219-931_219-914delinsCTTTGGGAGGCGAGGCAG | |
| NM_000022.2:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG , LRG_16t1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | NP_000013.2:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| XM_005260236.2:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | XP_005260293.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| XM_011528478.1:c.201+193_201+210delinsCTTTGGGAGGCGAGGCAG (ADA) | XP_011526780.1:n.201+193_201+210delinsCTTTGGGAGGCGAGGCAG | |
| XM_011528479.1:c.201+193_201+210delinsCTTTGGGAGGCGAGGCAG (ADA) | XP_011526781.1:n.201+193_201+210delinsCTTTGGGAGGCGAGGCAG | |
| XR_244129.1:n.660+193_660+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| NM_000022.3:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | NP_000013.2:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| NM_001322050.1:c.201+193_201+210delinsCTTTGGGAGGCGAGGCAG (ADA) | NP_001308979.1:n.201+193_201+210delinsCTTTGGGAGGCGAGGCAG | |
| NM_001322051.1:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | NP_001308980.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| NR_136160.1:n.757+193_757+210delinsCTTTGGGAGGCGAGGCAG (ADA) | ||
| NM_000022.4:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) MANE Select | NP_000013.2:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| NM_001322050.2:c.201+193_201+210delinsCTTTGGGAGGCGAGGCAG (ADA) | NP_001308979.1:n.201+193_201+210delinsCTTTGGGAGGCGAGGCAG | |
| NM_001322051.2:c.606+193_606+210delinsCTTTGGGAGGCGAGGCAG (ADA) | NP_001308980.1:n.606+193_606+210delinsCTTTGGGAGGCGAGGCAG | |
| NR_136160.2:n.698+193_698+210delinsCTTTGGGAGGCGAGGCAG (ADA) |