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.44623299_44623303delinsTTATC , CM000682.2:g.44623299_44623303delinsTTATC | GRCh38 |
| NC_000020.10:g.43251940_43251944delinsTTATC , CM000682.1:g.43251940_43251944delinsTTATC | GRCh37 |
| NC_000020.9:g.42685354_42685358delinsTTATC | NCBI36 |
| NG_007385.1:g.33433_33437delinsGATAA , LRG_16:g.33433_33437delinsGATAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.698-225_698-221delinsGATAA (ADA) | ||
| ENST00000536076.2:c.454-225_454-221delinsGATAA (ADA) | ENSP00000512234.1:n.454-225_454-221delinsGATAA | |
| ENST00000536532.6:c.607-225_607-221delinsGATAA (ADA) | ENSP00000440946.1:n.607-225_607-221delinsGATAA | |
| ENST00000537820.2:c.607-373_607-369delinsGATAA (ADA) | ENSP00000441818.1:n.607-373_607-369delinsGATAA | |
| ENST00000539235.6:c.219-225_219-221delinsGATAA (ADA) | ENSP00000446464.1:n.219-225_219-221delinsGATAA | |
| ENST00000695889.1:c.219-373_219-369delinsGATAA (ADA) | ENSP00000512240.1:n.219-373_219-369delinsGATAA | |
| ENST00000695890.1:n.2410-225_2410-221delinsGATAA (ADA) | ||
| ENST00000695891.1:c.219-373_219-369delinsGATAA (ADA) | ENSP00000512241.1:n.219-373_219-369delinsGATAA | |
| ENST00000695927.1:c.685-225_685-221delinsGATAA (ADA) | ENSP00000512270.1:n.685-225_685-221delinsGATAA | |
| ENST00000695949.1:c.604-373_604-369delinsGATAA (ADA) | ENSP00000512281.1:n.604-373_604-369delinsGATAA | |
| ENST00000695957.1:c.*98-225_*98-221delinsGATAA (ADA) | ENSP00000512286.1:n.*98-225_*98-221delinsGATAA | |
| ENST00000695991.1:c.217-373_217-369delinsGATAA (ADA) | ENSP00000512314.1:n.217-373_217-369delinsGATAA | |
| ENST00000695992.1:c.607-225_607-221delinsGATAA (ADA) | ENSP00000512315.1:n.607-225_607-221delinsGATAA | |
| ENST00000695993.1:c.607-225_607-221delinsGATAA (ADA) | ENSP00000512316.1:n.607-225_607-221delinsGATAA | |
| ENST00000695994.1:c.607-225_607-221delinsGATAA (ADA) | ENSP00000512317.1:n.607-225_607-221delinsGATAA | |
| ENST00000695995.1:c.217-225_217-221delinsGATAA (ADA) | ENSP00000512318.1:n.217-225_217-221delinsGATAA | |
| ENST00000695996.1:n.678-225_678-221delinsGATAA (ADA) | ||
| ENST00000696003.1:n.699-225_699-221delinsGATAA (ADA) | ||
| ENST00000696004.1:n.699-225_699-221delinsGATAA (ADA) | ||
| ENST00000696005.1:c.129-373_129-369delinsGATAA (ADA) | ||
| ENST00000696006.1:c.607-373_607-369delinsGATAA (ADA) | ENSP00000512325.1:n.607-373_607-369delinsGATAA | |
| ENST00000696007.1:c.458-225_458-221delinsGATAA (ADA) | ENSP00000512326.1:n.458-225_458-221delinsGATAA | |
| ENST00000696008.1:n.2660_2664delinsGATAA (ADA) | ||
| ENST00000696017.1:c.604-225_604-221delinsGATAA (ADA) | ENSP00000512333.1:n.604-225_604-221delinsGATAA | |
| ENST00000696034.1:c.607-225_607-221delinsGATAA (ADA) | ENSP00000512343.1:n.607-225_607-221delinsGATAA | |
| ENST00000696035.1:n.717-225_717-221delinsGATAA (ADA) | ||
| ENST00000696036.1:n.1297-225_1297-221delinsGATAA (ADA) | ||
| ENST00000696037.1:n.2284-225_2284-221delinsGATAA (ADA) | ||
| ENST00000696038.1:c.*353-225_*353-221delinsGATAA (ADA) | ENSP00000512344.1:n.*353-225_*353-221delinsGATAA | |
| ENST00000696039.1:n.895-225_895-221delinsGATAA (ADA) | ||
| ENST00000696058.1:c.607-228_607-224delinsGATAA (ADA) | ENSP00000512361.1:n.607-228_607-224delinsGATAA | |
| ENST00000696059.1:c.*552-225_*552-221delinsGATAA (ADA) | ENSP00000512362.1:n.*552-225_*552-221delinsGATAA | |
| ENST00000696060.1:c.607-156_607-152delinsGATAA (ADA) | ENSP00000512363.1:n.607-156_607-152delinsGATAA | |
| ENST00000696061.1:c.604-225_604-221delinsGATAA (ADA) | ENSP00000512364.1:n.604-225_604-221delinsGATAA | |
| ENST00000696062.1:c.670-225_670-221delinsGATAA (ADA) | ENSP00000512365.1:n.670-225_670-221delinsGATAA | |
| ENST00000696063.1:c.682-225_682-221delinsGATAA (ADA) | ENSP00000512366.1:n.682-225_682-221delinsGATAA | |
| ENST00000696064.1:c.454-225_454-221delinsGATAA (ADA) | ENSP00000512367.1:n.454-225_454-221delinsGATAA | |
| ENST00000696065.1:c.66-373_66-369delinsGATAA (ADA) | ENSP00000512368.1:n.66-373_66-369delinsGATAA | |
| ENST00000696073.1:n.617_621delinsGATAA (ADA) | ||
| ENST00000696074.1:n.223-225_223-221delinsGATAA (ADA) | ||
| ENST00000696075.1:c.*577-225_*577-221delinsGATAA (ADA) | ENSP00000512374.1:n.*577-225_*577-221delinsGATAA | |
| ENST00000696076.1:c.607-156_607-152delinsGATAA (ADA) | ENSP00000512375.1:n.607-156_607-152delinsGATAA | |
| ENST00000696077.1:c.604-228_604-224delinsGATAA (ADA) | ENSP00000512376.1:n.604-228_604-224delinsGATAA | |
| ENST00000696078.1:c.607-228_607-224delinsGATAA (ADA) | ENSP00000512377.1:n.607-228_607-224delinsGATAA | |
| ENST00000696079.1:c.607-228_607-224delinsGATAA (ADA) | ENSP00000512378.1:n.607-228_607-224delinsGATAA | |
| ENST00000696080.1:c.607-225_607-221delinsGATAA (ADA) | ENSP00000512379.1:n.607-225_607-221delinsGATAA | |
| ENST00000696081.1:n.726-225_726-221delinsGATAA (ADA) | ||
| ENST00000696082.1:c.685-228_685-224delinsGATAA (ADA) | ENSP00000512380.1:n.685-228_685-224delinsGATAA | |
| ENST00000696083.1:n.1488-225_1488-221delinsGATAA (ADA) | ||
| ENST00000696084.1:n.708-225_708-221delinsGATAA (ADA) | ||
| ENST00000696104.1:c.363-373_363-369delinsGATAA (ADA) | ENSP00000512399.1:n.363-373_363-369delinsGATAA | |
| ENST00000696105.1:c.*148-225_*148-221delinsGATAA (ADA) | ENSP00000512400.1:n.*148-225_*148-221delinsGATAA | |
| ENST00000372874.9:c.607-225_607-221delinsGATAA (ADA) MANE Select | ENSP00000361965.4:n.607-225_607-221delinsGATAA | |
| ENST00000372874.8:c.607-225_607-221delinsGATAA (ADA) | ENSP00000361965.4:n.607-225_607-221delinsGATAA | |
| ENST00000372887.5:c.152-634_152-630delinsTTATC (PKIG) | ENSP00000361978.1:n.152-634_152-630delinsTTATC | |
| ENST00000464097.5:n.281-225_281-221delinsGATAA (ADA) | ||
| ENST00000492931.5:n.691-225_691-221delinsGATAA (ADA) | ||
| ENST00000536532.5:c.607-225_607-221delinsGATAA (ADA) | ENSP00000440946.1:n.607-225_607-221delinsGATAA | |
| ENST00000537820.1:c.607-373_607-369delinsGATAA (ADA) | ENSP00000441818.1:n.607-373_607-369delinsGATAA | |
| ENST00000539235.5:c.219-225_219-221delinsGATAA (ADA) | ENSP00000446464.1:n.219-225_219-221delinsGATAA | |
| NM_000022.2:c.607-225_607-221delinsGATAA , LRG_16t1:c.607-225_607-221delinsGATAA (ADA) | NP_000013.2:n.607-225_607-221delinsGATAA | |
| XM_005260236.2:c.607-373_607-369delinsGATAA (ADA) | XP_005260293.1:n.607-373_607-369delinsGATAA | |
| XM_011528478.1:c.202-225_202-221delinsGATAA (ADA) | XP_011526780.1:n.202-225_202-221delinsGATAA | |
| XM_011528479.1:c.202-225_202-221delinsGATAA (ADA) | XP_011526781.1:n.202-225_202-221delinsGATAA | |
| XR_244129.1:n.661-225_661-221delinsGATAA (ADA) | ||
| NM_000022.3:c.607-225_607-221delinsGATAA (ADA) | NP_000013.2:n.607-225_607-221delinsGATAA | |
| NM_001322050.1:c.202-225_202-221delinsGATAA (ADA) | NP_001308979.1:n.202-225_202-221delinsGATAA | |
| NM_001322051.1:c.607-373_607-369delinsGATAA (ADA) | NP_001308980.1:n.607-373_607-369delinsGATAA | |
| NR_136160.1:n.758-225_758-221delinsGATAA (ADA) | ||
| NM_000022.4:c.607-225_607-221delinsGATAA (ADA) MANE Select | NP_000013.2:n.607-225_607-221delinsGATAA | |
| NM_001322050.2:c.202-225_202-221delinsGATAA (ADA) | NP_001308979.1:n.202-225_202-221delinsGATAA | |
| NM_001322051.2:c.607-373_607-369delinsGATAA (ADA) | NP_001308980.1:n.607-373_607-369delinsGATAA | |
| NR_136160.2:n.699-225_699-221delinsGATAA (ADA) |