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.
Linked Data
gnomAD v4:
20-44624472-T-TGGTTAGGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44624472_44624473insGGTTAGGA , CM000682.2:g.44624472_44624473insGGTTAGGA | GRCh38 |
| NC_000020.10:g.43253113_43253114insGGTTAGGA , CM000682.1:g.43253113_43253114insGGTTAGGA | GRCh37 |
| NC_000020.9:g.42686527_42686528insGGTTAGGA | NCBI36 |
| NG_007385.1:g.32263_32264insTCCTAACC , LRG_16:g.32263_32264insTCCTAACC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000492931.6:n.570-144_570-143insTCCTAACC | ||
| ENST00000536076.2:c.326-144_326-143insTCCTAACC | ENSP00000512234.1:n.326-144_326-143insTCCTAACC | |
| ENST00000536532.6:c.479-144_479-143insTCCTAACC | ENSP00000440946.1:n.479-144_479-143insTCCTAACC | |
| ENST00000537820.2:c.479-144_479-143insTCCTAACC | ENSP00000441818.1:n.479-144_479-143insTCCTAACC | |
| ENST00000539235.6:c.219-1395_219-1394insTCCTAACC | ENSP00000446464.1:n.219-1395_219-1394insTCCTAACC | |
| ENST00000695889.1:c.219-1543_219-1542insTCCTAACC | ENSP00000512240.1:n.219-1543_219-1542insTCCTAACC | |
| ENST00000695890.1:n.2282-144_2282-143insTCCTAACC | ||
| ENST00000695891.1:c.219-1543_219-1542insTCCTAACC | ENSP00000512241.1:n.219-1543_219-1542insTCCTAACC | |
| ENST00000695927.1:c.557-144_557-143insTCCTAACC | ENSP00000512270.1:n.557-144_557-143insTCCTAACC | |
| ENST00000695949.1:c.476-144_476-143insTCCTAACC | ENSP00000512281.1:n.476-144_476-143insTCCTAACC | |
| ENST00000695957.1:c.363-144_363-143insTCCTAACC | ENSP00000512286.1:n.363-144_363-143insTCCTAACC | |
| ENST00000695991.1:c.217-1543_217-1542insTCCTAACC | ENSP00000512314.1:n.217-1543_217-1542insTCCTAACC | |
| ENST00000695992.1:c.479-144_479-143insTCCTAACC | ENSP00000512315.1:n.479-144_479-143insTCCTAACC | |
| ENST00000695993.1:c.479-144_479-143insTCCTAACC | ENSP00000512316.1:n.479-144_479-143insTCCTAACC | |
| ENST00000695994.1:c.479-144_479-143insTCCTAACC | ENSP00000512317.1:n.479-144_479-143insTCCTAACC | |
| ENST00000695995.1:c.217-1395_217-1394insTCCTAACC | ENSP00000512318.1:n.217-1395_217-1394insTCCTAACC | |
| ENST00000695996.1:n.550-144_550-143insTCCTAACC | ||
| ENST00000695997.1:n.434-144_434-143insTCCTAACC | ||
| ENST00000696003.1:n.571-144_571-143insTCCTAACC | ||
| ENST00000696004.1:n.571-144_571-143insTCCTAACC | ||
| ENST00000696006.1:c.479-144_479-143insTCCTAACC | ENSP00000512325.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696007.1:c.330-144_330-143insTCCTAACC | ENSP00000512326.1:n.330-144_330-143insTCCTAACC | |
| ENST00000696008.1:n.1490_1491insTCCTAACC | ||
| ENST00000696009.1:n.1685_1686insTCCTAACC | ||
| ENST00000696017.1:c.476-144_476-143insTCCTAACC | ENSP00000512333.1:n.476-144_476-143insTCCTAACC | |
| ENST00000696034.1:c.479-144_479-143insTCCTAACC | ENSP00000512343.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696035.1:n.589-144_589-143insTCCTAACC | ||
| ENST00000696036.1:n.1169-144_1169-143insTCCTAACC | ||
| ENST00000696037.1:n.2156-144_2156-143insTCCTAACC | ||
| ENST00000696038.1:c.*225-144_*225-143insTCCTAACC | ENSP00000512344.1:n.*225-144_*225-143insTCCTAACC | |
| ENST00000696039.1:n.767-144_767-143insTCCTAACC | ||
| ENST00000696058.1:c.479-144_479-143insTCCTAACC | ENSP00000512361.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696059.1:c.*424-144_*424-143insTCCTAACC | ENSP00000512362.1:n.*424-144_*424-143insTCCTAACC | |
| ENST00000696060.1:c.479-144_479-143insTCCTAACC | ENSP00000512363.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696061.1:c.476-144_476-143insTCCTAACC | ENSP00000512364.1:n.476-144_476-143insTCCTAACC | |
| ENST00000696062.1:c.542-144_542-143insTCCTAACC | ENSP00000512365.1:n.542-144_542-143insTCCTAACC | |
| ENST00000696063.1:c.554-144_554-143insTCCTAACC | ENSP00000512366.1:n.554-144_554-143insTCCTAACC | |
| ENST00000696064.1:c.326-144_326-143insTCCTAACC | ENSP00000512367.1:n.326-144_326-143insTCCTAACC | |
| ENST00000696065.1:c.66-1543_66-1542insTCCTAACC | ENSP00000512368.1:n.66-1543_66-1542insTCCTAACC | |
| ENST00000696075.1:c.*449-144_*449-143insTCCTAACC | ENSP00000512374.1:n.*449-144_*449-143insTCCTAACC | |
| ENST00000696076.1:c.479-144_479-143insTCCTAACC | ENSP00000512375.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696077.1:c.476-144_476-143insTCCTAACC | ENSP00000512376.1:n.476-144_476-143insTCCTAACC | |
| ENST00000696078.1:c.479-144_479-143insTCCTAACC | ENSP00000512377.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696079.1:c.479-144_479-143insTCCTAACC | ENSP00000512378.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696080.1:c.479-144_479-143insTCCTAACC | ENSP00000512379.1:n.479-144_479-143insTCCTAACC | |
| ENST00000696081.1:n.454_455insTCCTAACC | ||
| ENST00000696082.1:c.557-144_557-143insTCCTAACC | ENSP00000512380.1:n.557-144_557-143insTCCTAACC | |
| ENST00000696083.1:n.1216_1217insTCCTAACC | ||
| ENST00000696084.1:n.580-144_580-143insTCCTAACC | ||
| ENST00000696104.1:c.363-1543_363-1542insTCCTAACC | ENSP00000512399.1:n.363-1543_363-1542insTCCTAACC | |
| ENST00000696105.1:c.*20-144_*20-143insTCCTAACC | ENSP00000512400.1:n.*20-144_*20-143insTCCTAACC | |
| ENST00000372874.9:c.479-144_479-143insTCCTAACC MANE Select | ENSP00000361965.4:n.479-144_479-143insTCCTAACC | |
| ENST00000372874.8:c.479-144_479-143insTCCTAACC | ENSP00000361965.4:n.479-144_479-143insTCCTAACC | |
| ENST00000464097.5:n.153-144_153-143insTCCTAACC | ||
| ENST00000492931.5:n.563-144_563-143insTCCTAACC | ||
| ENST00000536532.5:c.479-144_479-143insTCCTAACC | ENSP00000440946.1:n.479-144_479-143insTCCTAACC | |
| ENST00000537820.1:c.479-144_479-143insTCCTAACC | ENSP00000441818.1:n.479-144_479-143insTCCTAACC | |
| ENST00000539235.5:c.219-1395_219-1394insTCCTAACC | ENSP00000446464.1:n.219-1395_219-1394insTCCTAACC | |
| NM_000022.2:c.479-144_479-143insTCCTAACC , LRG_16t1:c.479-144_479-143insTCCTAACC | NP_000013.2:n.479-144_479-143insTCCTAACC | |
| XM_005260236.2:c.479-144_479-143insTCCTAACC | XP_005260293.1:n.479-144_479-143insTCCTAACC | |
| XM_011528478.1:c.74-144_74-143insTCCTAACC | XP_011526780.1:n.74-144_74-143insTCCTAACC | |
| XM_011528479.1:c.74-144_74-143insTCCTAACC | XP_011526781.1:n.74-144_74-143insTCCTAACC | |
| XR_244129.1:n.533-144_533-143insTCCTAACC | ||
| NM_000022.3:c.479-144_479-143insTCCTAACC | NP_000013.2:n.479-144_479-143insTCCTAACC | |
| NM_001322050.1:c.74-144_74-143insTCCTAACC | NP_001308979.1:n.74-144_74-143insTCCTAACC | |
| NM_001322051.1:c.479-144_479-143insTCCTAACC | NP_001308980.1:n.479-144_479-143insTCCTAACC | |
| NR_136160.1:n.630-144_630-143insTCCTAACC | ||
| NM_000022.4:c.479-144_479-143insTCCTAACC MANE Select | NP_000013.2:n.479-144_479-143insTCCTAACC | |
| NM_001322050.2:c.74-144_74-143insTCCTAACC | NP_001308979.1:n.74-144_74-143insTCCTAACC | |
| NM_001322051.2:c.479-144_479-143insTCCTAACC | NP_001308980.1:n.479-144_479-143insTCCTAACC | |
| NR_136160.2:n.571-144_571-143insTCCTAACC |