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.44620252_44620253delinsTG , CM000682.2:g.44620252_44620253delinsTG | GRCh38 |
| NC_000020.10:g.43248893_43248894delinsTG , CM000682.1:g.43248893_43248894delinsTG | GRCh37 |
| NC_000020.9:g.42682307_42682308delinsTG | NCBI36 |
| NG_007385.1:g.36483_36484delinsCA , LRG_16:g.36483_36484delinsCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.1245+46_1245+47delinsCA (ADA) | ||
| ENST00000536076.2:c.925+46_925+47delinsCA (ADA) | ENSP00000512234.1:n.925+46_925+47delinsCA | |
| ENST00000536532.6:c.*221+46_*221+47delinsCA (ADA) | ENSP00000440946.1:n.*221+46_*221+47delinsCA | |
| ENST00000537820.2:c.1006+46_1006+47delinsCA (ADA) | ENSP00000441818.1:n.1006+46_1006+47delinsCA | |
| ENST00000539235.6:c.*462+46_*462+47delinsCA (ADA) | ENSP00000446464.1:n.*462+46_*462+47delinsCA | |
| ENST00000695889.1:c.553+46_553+47delinsCA (ADA) | ENSP00000512240.1:n.553+46_553+47delinsCA | |
| ENST00000695890.1:n.5235_5236delinsCA (ADA) | ||
| ENST00000695891.1:c.618+46_618+47delinsCA (ADA) | ENSP00000512241.1:n.618+46_618+47delinsCA | |
| ENST00000695927.1:c.1156+46_1156+47delinsCA (ADA) | ENSP00000512270.1:n.1156+46_1156+47delinsCA | |
| ENST00000695949.1:c.1003+46_1003+47delinsCA (ADA) | ENSP00000512281.1:n.1003+46_1003+47delinsCA | |
| ENST00000695956.1:c.233+46_233+47delinsCA (ADA) | ||
| ENST00000695957.1:c.*569+46_*569+47delinsCA (ADA) | ENSP00000512286.1:n.*569+46_*569+47delinsCA | |
| ENST00000695991.1:c.616+46_616+47delinsCA (ADA) | ENSP00000512314.1:n.616+46_616+47delinsCA | |
| ENST00000695992.1:c.*267_*268delinsCA (ADA) | ENSP00000512315.1:n.*267_*268delinsCA | |
| ENST00000695993.1:c.1078+46_1078+47delinsCA (ADA) | ENSP00000512316.1:n.1078+46_1078+47delinsCA | |
| ENST00000695994.1:c.*221+46_*221+47delinsCA (ADA) | ENSP00000512317.1:n.*221+46_*221+47delinsCA | |
| ENST00000695995.1:c.688+46_688+47delinsCA (ADA) | ENSP00000512318.1:n.688+46_688+47delinsCA | |
| ENST00000695996.1:n.1160+46_1160+47delinsCA (ADA) | ||
| ENST00000696003.1:n.2862+46_2862+47delinsCA (ADA) | ||
| ENST00000696004.1:n.1908_1909delinsCA (ADA) | ||
| ENST00000696005.1:c.574_575delinsCA (ADA) | ||
| ENST00000696006.1:c.*221+46_*221+47delinsCA (ADA) | ENSP00000512325.1:n.*221+46_*221+47delinsCA | |
| ENST00000696007.1:c.1005+46_1005+47delinsCA (ADA) | ENSP00000512326.1:n.1005+46_1005+47delinsCA | |
| ENST00000696008.1:n.3478_3479delinsCA (ADA) | ||
| ENST00000696017.1:c.1121_1122delinsCA (ADA) | ENSP00000512333.1:p.Pro374= | |
| ENST00000696034.1:c.*221+46_*221+47delinsCA (ADA) | ENSP00000512343.1:n.*221+46_*221+47delinsCA | |
| ENST00000696035.1:n.1310_1311delinsCA (ADA) | ||
| ENST00000696036.1:n.1825_1826delinsCA (ADA) | ||
| ENST00000696037.1:n.2755+46_2755+47delinsCA (ADA) | ||
| ENST00000696038.1:c.*881_*882delinsCA (ADA) | ENSP00000512344.1:n.*881_*882delinsCA | |
| ENST00000696039.1:n.1442+46_1442+47delinsCA (ADA) | ||
| ENST00000696058.1:c.1075+46_1075+47delinsCA (ADA) | ENSP00000512361.1:n.1075+46_1075+47delinsCA | |
| ENST00000696059.1:c.*1023+46_*1023+47delinsCA (ADA) | ENSP00000512362.1:n.*1023+46_*1023+47delinsCA | |
| ENST00000696060.1:c.1147+46_1147+47delinsCA (ADA) | ENSP00000512363.1:n.1147+46_1147+47delinsCA | |
| ENST00000696061.1:c.1075+46_1075+47delinsCA (ADA) | ENSP00000512364.1:n.1075+46_1075+47delinsCA | |
| ENST00000696062.1:c.1141+46_1141+47delinsCA (ADA) | ENSP00000512365.1:n.1141+46_1141+47delinsCA | |
| ENST00000696063.1:c.1153+46_1153+47delinsCA (ADA) | ENSP00000512366.1:n.1153+46_1153+47delinsCA | |
| ENST00000696064.1:c.925+46_925+47delinsCA (ADA) | ENSP00000512367.1:n.925+46_925+47delinsCA | |
| ENST00000696065.1:c.400+46_400+47delinsCA (ADA) | ENSP00000512368.1:n.400+46_400+47delinsCA | |
| ENST00000696072.1:n.479_480delinsCA (ADA) | ||
| ENST00000696073.1:n.1389+46_1389+47delinsCA (ADA) | ||
| ENST00000696074.1:n.629+46_629+47delinsCA (ADA) | ||
| ENST00000696075.1:c.*1048+46_*1048+47delinsCA (ADA) | ENSP00000512374.1:n.*1048+46_*1048+47delinsCA | |
| ENST00000696076.1:c.1193_1194delinsCA (ADA) | ENSP00000512375.1:p.Pro398= | |
| ENST00000696077.1:c.1072+46_1072+47delinsCA (ADA) | ENSP00000512376.1:n.1072+46_1072+47delinsCA | |
| ENST00000696078.1:c.1075+46_1075+47delinsCA (ADA) | ENSP00000512377.1:n.1075+46_1075+47delinsCA | |
| ENST00000696079.1:c.1075+46_1075+47delinsCA (ADA) | ENSP00000512378.1:n.1075+46_1075+47delinsCA | |
| ENST00000696080.1:c.1078+46_1078+47delinsCA (ADA) | ENSP00000512379.1:n.1078+46_1078+47delinsCA | |
| ENST00000696081.1:n.1243_1244delinsCA (ADA) | ||
| ENST00000696082.1:c.1153+46_1153+47delinsCA (ADA) | ENSP00000512380.1:n.1153+46_1153+47delinsCA | |
| ENST00000696083.1:n.2035+46_2035+47delinsCA (ADA) | ||
| ENST00000696084.1:n.1301_1302delinsCA (ADA) | ||
| ENST00000696104.1:c.*147+46_*147+47delinsCA (ADA) | ENSP00000512399.1:n.*147+46_*147+47delinsCA | |
| ENST00000372874.9:c.1078+46_1078+47delinsCA (ADA) MANE Select | ENSP00000361965.4:n.1078+46_1078+47delinsCA | |
| ENST00000372874.8:c.1078+46_1078+47delinsCA (ADA) | ENSP00000361965.4:n.1078+46_1078+47delinsCA | |
| ENST00000372887.5:c.152-3681_152-3680delinsTG (PKIG) | ENSP00000361978.1:n.152-3681_152-3680delinsTG | |
| ENST00000464097.5:n.1444+46_1444+47delinsCA (ADA) | ||
| ENST00000492931.5:n.1238+46_1238+47delinsCA (ADA) | ||
| ENST00000536532.5:c.*221+46_*221+47delinsCA (ADA) | ENSP00000440946.1:n.*221+46_*221+47delinsCA | |
| ENST00000537820.1:c.1006+46_1006+47delinsCA (ADA) | ENSP00000441818.1:n.1006+46_1006+47delinsCA | |
| ENST00000539235.5:c.*462+46_*462+47delinsCA (ADA) | ENSP00000446464.1:n.*462+46_*462+47delinsCA | |
| NM_000022.2:c.1078+46_1078+47delinsCA , LRG_16t1:c.1078+46_1078+47delinsCA (ADA) | NP_000013.2:n.1078+46_1078+47delinsCA | |
| XM_005260236.2:c.1006+46_1006+47delinsCA (ADA) | XP_005260293.1:n.1006+46_1006+47delinsCA | |
| XM_011528478.1:c.673+46_673+47delinsCA (ADA) | XP_011526780.1:n.673+46_673+47delinsCA | |
| XM_011528479.1:c.673+46_673+47delinsCA (ADA) | XP_011526781.1:n.673+46_673+47delinsCA | |
| XR_244129.1:n.1067+46_1067+47delinsCA (ADA) | ||
| NM_000022.3:c.1078+46_1078+47delinsCA (ADA) | NP_000013.2:n.1078+46_1078+47delinsCA | |
| NM_001322050.1:c.673+46_673+47delinsCA (ADA) | NP_001308979.1:n.673+46_673+47delinsCA | |
| NM_001322051.1:c.1006+46_1006+47delinsCA (ADA) | NP_001308980.1:n.1006+46_1006+47delinsCA | |
| NR_136160.1:n.1164+46_1164+47delinsCA (ADA) | ||
| NM_000022.4:c.1078+46_1078+47delinsCA (ADA) MANE Select | NP_000013.2:n.1078+46_1078+47delinsCA | |
| NM_001322050.2:c.673+46_673+47delinsCA (ADA) | NP_001308979.1:n.673+46_673+47delinsCA | |
| NM_001322051.2:c.1006+46_1006+47delinsCA (ADA) | NP_001308980.1:n.1006+46_1006+47delinsCA | |
| NR_136160.2:n.1105+46_1105+47delinsCA (ADA) |