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.44623297_44623298delinsCA , CM000682.2:g.44623297_44623298delinsCA | GRCh38 |
| NC_000020.10:g.43251938_43251939delinsCA , CM000682.1:g.43251938_43251939delinsCA | GRCh37 |
| NC_000020.9:g.42685352_42685353delinsCA | NCBI36 |
| NG_007385.1:g.33438_33439delinsTG , LRG_16:g.33438_33439delinsTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.698-220_698-219delinsTG (ADA) | ||
| ENST00000536076.2:c.454-220_454-219delinsTG (ADA) | ENSP00000512234.1:n.454-220_454-219delinsTG | |
| ENST00000536532.6:c.607-220_607-219delinsTG (ADA) | ENSP00000440946.1:n.607-220_607-219delinsTG | |
| ENST00000537820.2:c.607-368_607-367delinsTG (ADA) | ENSP00000441818.1:n.607-368_607-367delinsTG | |
| ENST00000539235.6:c.219-220_219-219delinsTG (ADA) | ENSP00000446464.1:n.219-220_219-219delinsTG | |
| ENST00000695889.1:c.219-368_219-367delinsTG (ADA) | ENSP00000512240.1:n.219-368_219-367delinsTG | |
| ENST00000695890.1:n.2410-220_2410-219delinsTG (ADA) | ||
| ENST00000695891.1:c.219-368_219-367delinsTG (ADA) | ENSP00000512241.1:n.219-368_219-367delinsTG | |
| ENST00000695927.1:c.685-220_685-219delinsTG (ADA) | ENSP00000512270.1:n.685-220_685-219delinsTG | |
| ENST00000695949.1:c.604-368_604-367delinsTG (ADA) | ENSP00000512281.1:n.604-368_604-367delinsTG | |
| ENST00000695957.1:c.*98-220_*98-219delinsTG (ADA) | ENSP00000512286.1:n.*98-220_*98-219delinsTG | |
| ENST00000695991.1:c.217-368_217-367delinsTG (ADA) | ENSP00000512314.1:n.217-368_217-367delinsTG | |
| ENST00000695992.1:c.607-220_607-219delinsTG (ADA) | ENSP00000512315.1:n.607-220_607-219delinsTG | |
| ENST00000695993.1:c.607-220_607-219delinsTG (ADA) | ENSP00000512316.1:n.607-220_607-219delinsTG | |
| ENST00000695994.1:c.607-220_607-219delinsTG (ADA) | ENSP00000512317.1:n.607-220_607-219delinsTG | |
| ENST00000695995.1:c.217-220_217-219delinsTG (ADA) | ENSP00000512318.1:n.217-220_217-219delinsTG | |
| ENST00000695996.1:n.678-220_678-219delinsTG (ADA) | ||
| ENST00000696003.1:n.699-220_699-219delinsTG (ADA) | ||
| ENST00000696004.1:n.699-220_699-219delinsTG (ADA) | ||
| ENST00000696005.1:c.129-368_129-367delinsTG (ADA) | ||
| ENST00000696006.1:c.607-368_607-367delinsTG (ADA) | ENSP00000512325.1:n.607-368_607-367delinsTG | |
| ENST00000696007.1:c.458-220_458-219delinsTG (ADA) | ENSP00000512326.1:n.458-220_458-219delinsTG | |
| ENST00000696008.1:n.2665_2666delinsTG (ADA) | ||
| ENST00000696017.1:c.604-220_604-219delinsTG (ADA) | ENSP00000512333.1:n.604-220_604-219delinsTG | |
| ENST00000696034.1:c.607-220_607-219delinsTG (ADA) | ENSP00000512343.1:n.607-220_607-219delinsTG | |
| ENST00000696035.1:n.717-220_717-219delinsTG (ADA) | ||
| ENST00000696036.1:n.1297-220_1297-219delinsTG (ADA) | ||
| ENST00000696037.1:n.2284-220_2284-219delinsTG (ADA) | ||
| ENST00000696038.1:c.*353-220_*353-219delinsTG (ADA) | ENSP00000512344.1:n.*353-220_*353-219delinsTG | |
| ENST00000696039.1:n.895-220_895-219delinsTG (ADA) | ||
| ENST00000696058.1:c.607-223_607-222delinsTG (ADA) | ENSP00000512361.1:n.607-223_607-222delinsTG | |
| ENST00000696059.1:c.*552-220_*552-219delinsTG (ADA) | ENSP00000512362.1:n.*552-220_*552-219delinsTG | |
| ENST00000696060.1:c.607-151_607-150delinsTG (ADA) | ENSP00000512363.1:n.607-151_607-150delinsTG | |
| ENST00000696061.1:c.604-220_604-219delinsTG (ADA) | ENSP00000512364.1:n.604-220_604-219delinsTG | |
| ENST00000696062.1:c.670-220_670-219delinsTG (ADA) | ENSP00000512365.1:n.670-220_670-219delinsTG | |
| ENST00000696063.1:c.682-220_682-219delinsTG (ADA) | ENSP00000512366.1:n.682-220_682-219delinsTG | |
| ENST00000696064.1:c.454-220_454-219delinsTG (ADA) | ENSP00000512367.1:n.454-220_454-219delinsTG | |
| ENST00000696065.1:c.66-368_66-367delinsTG (ADA) | ENSP00000512368.1:n.66-368_66-367delinsTG | |
| ENST00000696073.1:n.622_623delinsTG (ADA) | ||
| ENST00000696074.1:n.223-220_223-219delinsTG (ADA) | ||
| ENST00000696075.1:c.*577-220_*577-219delinsTG (ADA) | ENSP00000512374.1:n.*577-220_*577-219delinsTG | |
| ENST00000696076.1:c.607-151_607-150delinsTG (ADA) | ENSP00000512375.1:n.607-151_607-150delinsTG | |
| ENST00000696077.1:c.604-223_604-222delinsTG (ADA) | ENSP00000512376.1:n.604-223_604-222delinsTG | |
| ENST00000696078.1:c.607-223_607-222delinsTG (ADA) | ENSP00000512377.1:n.607-223_607-222delinsTG | |
| ENST00000696079.1:c.607-223_607-222delinsTG (ADA) | ENSP00000512378.1:n.607-223_607-222delinsTG | |
| ENST00000696080.1:c.607-220_607-219delinsTG (ADA) | ENSP00000512379.1:n.607-220_607-219delinsTG | |
| ENST00000696081.1:n.726-220_726-219delinsTG (ADA) | ||
| ENST00000696082.1:c.685-223_685-222delinsTG (ADA) | ENSP00000512380.1:n.685-223_685-222delinsTG | |
| ENST00000696083.1:n.1488-220_1488-219delinsTG (ADA) | ||
| ENST00000696084.1:n.708-220_708-219delinsTG (ADA) | ||
| ENST00000696104.1:c.363-368_363-367delinsTG (ADA) | ENSP00000512399.1:n.363-368_363-367delinsTG | |
| ENST00000696105.1:c.*148-220_*148-219delinsTG (ADA) | ENSP00000512400.1:n.*148-220_*148-219delinsTG | |
| ENST00000372874.9:c.607-220_607-219delinsTG (ADA) MANE Select | ENSP00000361965.4:n.607-220_607-219delinsTG | |
| ENST00000372874.8:c.607-220_607-219delinsTG (ADA) | ENSP00000361965.4:n.607-220_607-219delinsTG | |
| ENST00000372887.5:c.152-636_152-635delinsCA (PKIG) | ENSP00000361978.1:n.152-636_152-635delinsCA | |
| ENST00000464097.5:n.281-220_281-219delinsTG (ADA) | ||
| ENST00000492931.5:n.691-220_691-219delinsTG (ADA) | ||
| ENST00000536532.5:c.607-220_607-219delinsTG (ADA) | ENSP00000440946.1:n.607-220_607-219delinsTG | |
| ENST00000537820.1:c.607-368_607-367delinsTG (ADA) | ENSP00000441818.1:n.607-368_607-367delinsTG | |
| ENST00000539235.5:c.219-220_219-219delinsTG (ADA) | ENSP00000446464.1:n.219-220_219-219delinsTG | |
| NM_000022.2:c.607-220_607-219delinsTG , LRG_16t1:c.607-220_607-219delinsTG (ADA) | NP_000013.2:n.607-220_607-219delinsTG | |
| XM_005260236.2:c.607-368_607-367delinsTG (ADA) | XP_005260293.1:n.607-368_607-367delinsTG | |
| XM_011528478.1:c.202-220_202-219delinsTG (ADA) | XP_011526780.1:n.202-220_202-219delinsTG | |
| XM_011528479.1:c.202-220_202-219delinsTG (ADA) | XP_011526781.1:n.202-220_202-219delinsTG | |
| XR_244129.1:n.661-220_661-219delinsTG (ADA) | ||
| NM_000022.3:c.607-220_607-219delinsTG (ADA) | NP_000013.2:n.607-220_607-219delinsTG | |
| NM_001322050.1:c.202-220_202-219delinsTG (ADA) | NP_001308979.1:n.202-220_202-219delinsTG | |
| NM_001322051.1:c.607-368_607-367delinsTG (ADA) | NP_001308980.1:n.607-368_607-367delinsTG | |
| NR_136160.1:n.758-220_758-219delinsTG (ADA) | ||
| NM_000022.4:c.607-220_607-219delinsTG (ADA) MANE Select | NP_000013.2:n.607-220_607-219delinsTG | |
| NM_001322050.2:c.202-220_202-219delinsTG (ADA) | NP_001308979.1:n.202-220_202-219delinsTG | |
| NM_001322051.2:c.607-368_607-367delinsTG (ADA) | NP_001308980.1:n.607-368_607-367delinsTG | |
| NR_136160.2:n.699-220_699-219delinsTG (ADA) |