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.44623284_44623285delinsAG , CM000682.2:g.44623284_44623285delinsAG | GRCh38 |
| NC_000020.10:g.43251925_43251926delinsAG , CM000682.1:g.43251925_43251926delinsAG | GRCh37 |
| NC_000020.9:g.42685339_42685340delinsAG | NCBI36 |
| NG_007385.1:g.33451_33452delinsCT , LRG_16:g.33451_33452delinsCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.698-207_698-206delinsCT (ADA) | ||
| ENST00000536076.2:c.454-207_454-206delinsCT (ADA) | ENSP00000512234.1:n.454-207_454-206delinsCT | |
| ENST00000536532.6:c.607-207_607-206delinsCT (ADA) | ENSP00000440946.1:n.607-207_607-206delinsCT | |
| ENST00000537820.2:c.607-355_607-354delinsCT (ADA) | ENSP00000441818.1:n.607-355_607-354delinsCT | |
| ENST00000539235.6:c.219-207_219-206delinsCT (ADA) | ENSP00000446464.1:n.219-207_219-206delinsCT | |
| ENST00000695889.1:c.219-355_219-354delinsCT (ADA) | ENSP00000512240.1:n.219-355_219-354delinsCT | |
| ENST00000695890.1:n.2410-207_2410-206delinsCT (ADA) | ||
| ENST00000695891.1:c.219-355_219-354delinsCT (ADA) | ENSP00000512241.1:n.219-355_219-354delinsCT | |
| ENST00000695927.1:c.685-207_685-206delinsCT (ADA) | ENSP00000512270.1:n.685-207_685-206delinsCT | |
| ENST00000695949.1:c.604-355_604-354delinsCT (ADA) | ENSP00000512281.1:n.604-355_604-354delinsCT | |
| ENST00000695957.1:c.*98-207_*98-206delinsCT (ADA) | ENSP00000512286.1:n.*98-207_*98-206delinsCT | |
| ENST00000695991.1:c.217-355_217-354delinsCT (ADA) | ENSP00000512314.1:n.217-355_217-354delinsCT | |
| ENST00000695992.1:c.607-207_607-206delinsCT (ADA) | ENSP00000512315.1:n.607-207_607-206delinsCT | |
| ENST00000695993.1:c.607-207_607-206delinsCT (ADA) | ENSP00000512316.1:n.607-207_607-206delinsCT | |
| ENST00000695994.1:c.607-207_607-206delinsCT (ADA) | ENSP00000512317.1:n.607-207_607-206delinsCT | |
| ENST00000695995.1:c.217-207_217-206delinsCT (ADA) | ENSP00000512318.1:n.217-207_217-206delinsCT | |
| ENST00000695996.1:n.678-207_678-206delinsCT (ADA) | ||
| ENST00000696003.1:n.699-207_699-206delinsCT (ADA) | ||
| ENST00000696004.1:n.699-207_699-206delinsCT (ADA) | ||
| ENST00000696005.1:c.129-355_129-354delinsCT (ADA) | ||
| ENST00000696006.1:c.607-355_607-354delinsCT (ADA) | ENSP00000512325.1:n.607-355_607-354delinsCT | |
| ENST00000696007.1:c.458-207_458-206delinsCT (ADA) | ENSP00000512326.1:n.458-207_458-206delinsCT | |
| ENST00000696008.1:n.2678_2679delinsCT (ADA) | ||
| ENST00000696017.1:c.604-207_604-206delinsCT (ADA) | ENSP00000512333.1:n.604-207_604-206delinsCT | |
| ENST00000696034.1:c.607-207_607-206delinsCT (ADA) | ENSP00000512343.1:n.607-207_607-206delinsCT | |
| ENST00000696035.1:n.717-207_717-206delinsCT (ADA) | ||
| ENST00000696036.1:n.1297-207_1297-206delinsCT (ADA) | ||
| ENST00000696037.1:n.2284-207_2284-206delinsCT (ADA) | ||
| ENST00000696038.1:c.*353-207_*353-206delinsCT (ADA) | ENSP00000512344.1:n.*353-207_*353-206delinsCT | |
| ENST00000696039.1:n.895-207_895-206delinsCT (ADA) | ||
| ENST00000696058.1:c.607-210_607-209delinsCT (ADA) | ENSP00000512361.1:n.607-210_607-209delinsCT | |
| ENST00000696059.1:c.*552-207_*552-206delinsCT (ADA) | ENSP00000512362.1:n.*552-207_*552-206delinsCT | |
| ENST00000696060.1:c.607-138_607-137delinsCT (ADA) | ENSP00000512363.1:n.607-138_607-137delinsCT | |
| ENST00000696061.1:c.604-207_604-206delinsCT (ADA) | ENSP00000512364.1:n.604-207_604-206delinsCT | |
| ENST00000696062.1:c.670-207_670-206delinsCT (ADA) | ENSP00000512365.1:n.670-207_670-206delinsCT | |
| ENST00000696063.1:c.682-207_682-206delinsCT (ADA) | ENSP00000512366.1:n.682-207_682-206delinsCT | |
| ENST00000696064.1:c.454-207_454-206delinsCT (ADA) | ENSP00000512367.1:n.454-207_454-206delinsCT | |
| ENST00000696065.1:c.66-355_66-354delinsCT (ADA) | ENSP00000512368.1:n.66-355_66-354delinsCT | |
| ENST00000696073.1:n.635_636delinsCT (ADA) | ||
| ENST00000696074.1:n.223-207_223-206delinsCT (ADA) | ||
| ENST00000696075.1:c.*577-207_*577-206delinsCT (ADA) | ENSP00000512374.1:n.*577-207_*577-206delinsCT | |
| ENST00000696076.1:c.607-138_607-137delinsCT (ADA) | ENSP00000512375.1:n.607-138_607-137delinsCT | |
| ENST00000696077.1:c.604-210_604-209delinsCT (ADA) | ENSP00000512376.1:n.604-210_604-209delinsCT | |
| ENST00000696078.1:c.607-210_607-209delinsCT (ADA) | ENSP00000512377.1:n.607-210_607-209delinsCT | |
| ENST00000696079.1:c.607-210_607-209delinsCT (ADA) | ENSP00000512378.1:n.607-210_607-209delinsCT | |
| ENST00000696080.1:c.607-207_607-206delinsCT (ADA) | ENSP00000512379.1:n.607-207_607-206delinsCT | |
| ENST00000696081.1:n.726-207_726-206delinsCT (ADA) | ||
| ENST00000696082.1:c.685-210_685-209delinsCT (ADA) | ENSP00000512380.1:n.685-210_685-209delinsCT | |
| ENST00000696083.1:n.1488-207_1488-206delinsCT (ADA) | ||
| ENST00000696084.1:n.708-207_708-206delinsCT (ADA) | ||
| ENST00000696104.1:c.363-355_363-354delinsCT (ADA) | ENSP00000512399.1:n.363-355_363-354delinsCT | |
| ENST00000696105.1:c.*148-207_*148-206delinsCT (ADA) | ENSP00000512400.1:n.*148-207_*148-206delinsCT | |
| ENST00000372874.9:c.607-207_607-206delinsCT (ADA) MANE Select | ENSP00000361965.4:n.607-207_607-206delinsCT | |
| ENST00000372874.8:c.607-207_607-206delinsCT (ADA) | ENSP00000361965.4:n.607-207_607-206delinsCT | |
| ENST00000372887.5:c.152-649_152-648delinsAG (PKIG) | ENSP00000361978.1:n.152-649_152-648delinsAG | |
| ENST00000464097.5:n.281-207_281-206delinsCT (ADA) | ||
| ENST00000492931.5:n.691-207_691-206delinsCT (ADA) | ||
| ENST00000536532.5:c.607-207_607-206delinsCT (ADA) | ENSP00000440946.1:n.607-207_607-206delinsCT | |
| ENST00000537820.1:c.607-355_607-354delinsCT (ADA) | ENSP00000441818.1:n.607-355_607-354delinsCT | |
| ENST00000539235.5:c.219-207_219-206delinsCT (ADA) | ENSP00000446464.1:n.219-207_219-206delinsCT | |
| NM_000022.2:c.607-207_607-206delinsCT , LRG_16t1:c.607-207_607-206delinsCT (ADA) | NP_000013.2:n.607-207_607-206delinsCT | |
| XM_005260236.2:c.607-355_607-354delinsCT (ADA) | XP_005260293.1:n.607-355_607-354delinsCT | |
| XM_011528478.1:c.202-207_202-206delinsCT (ADA) | XP_011526780.1:n.202-207_202-206delinsCT | |
| XM_011528479.1:c.202-207_202-206delinsCT (ADA) | XP_011526781.1:n.202-207_202-206delinsCT | |
| XR_244129.1:n.661-207_661-206delinsCT (ADA) | ||
| NM_000022.3:c.607-207_607-206delinsCT (ADA) | NP_000013.2:n.607-207_607-206delinsCT | |
| NM_001322050.1:c.202-207_202-206delinsCT (ADA) | NP_001308979.1:n.202-207_202-206delinsCT | |
| NM_001322051.1:c.607-355_607-354delinsCT (ADA) | NP_001308980.1:n.607-355_607-354delinsCT | |
| NR_136160.1:n.758-207_758-206delinsCT (ADA) | ||
| NM_000022.4:c.607-207_607-206delinsCT (ADA) MANE Select | NP_000013.2:n.607-207_607-206delinsCT | |
| NM_001322050.2:c.202-207_202-206delinsCT (ADA) | NP_001308979.1:n.202-207_202-206delinsCT | |
| NM_001322051.2:c.607-355_607-354delinsCT (ADA) | NP_001308980.1:n.607-355_607-354delinsCT | |
| NR_136160.2:n.699-207_699-206delinsCT (ADA) |