SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.56514566_56514567delinsGA , CM000678.2:g.56514566_56514567delinsGA | GRCh38 |
| NC_000016.9:g.56548478_56548479delinsGA , CM000678.1:g.56548478_56548479delinsGA | GRCh37 |
| NC_000016.8:g.55105979_55105980delinsGA | NCBI36 |
| NG_009312.1:g.10717_10718delinsTC | |
| NG_009312.2:g.10458_10459delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000562012.2:c.*205_*206delinsTC | ENSP00000455651.2:n.*205_*206delinsTC | |
| ENST00000562059.2:n.228_229delinsTC | ||
| ENST00000565378.2:n.114_115delinsTC | ||
| ENST00000565781.6:n.245_246delinsTC | ||
| ENST00000566410.2:n.444_445delinsTC | ||
| ENST00000568104.6:c.231_232delinsTC | ENSP00000456289.1:p.Cys77= | |
| ENST00000569342.6:n.404_405delinsTC | ||
| ENST00000569941.6:c.-243_-242delinsTC | ENSP00000456741.2:n.-243_-242delinsTC | |
| ENST00000682001.1:n.225_226delinsTC | ||
| ENST00000682005.1:n.222_223delinsTC | ||
| ENST00000682021.1:n.241_242delinsTC | ||
| ENST00000682038.1:c.231_232delinsTC | ENSP00000508404.1:p.Cys77= | |
| ENST00000682047.1:c.231_232delinsTC | ENSP00000507699.1:p.Cys77= | |
| ENST00000682088.1:c.231_232delinsTC | ENSP00000508064.1:p.Cys77= | |
| ENST00000682096.1:n.437_438delinsTC | ||
| ENST00000682113.1:n.204_205delinsTC | ||
| ENST00000682146.1:n.444_445delinsTC | ||
| ENST00000682187.1:c.231_232delinsTC | ENSP00000507203.1:p.Cys77= | |
| ENST00000682188.1:c.231_232delinsTC | ENSP00000507655.1:p.Cys77= | |
| ENST00000682201.1:n.222_223delinsTC | ||
| ENST00000682205.1:c.231_232delinsTC | ENSP00000508377.1:p.Cys77= | |
| ENST00000682348.1:c.231_232delinsTC | ENSP00000506965.1:p.Cys77= | |
| ENST00000682360.1:c.-367_-366delinsTC | ENSP00000508007.1:n.-367_-366delinsTC | |
| ENST00000682370.1:n.437_438delinsTC | ||
| ENST00000682420.1:n.437_438delinsTC | ||
| ENST00000682429.1:c.231_232delinsTC | ENSP00000506827.1:p.Cys77= | |
| ENST00000682449.1:c.231_232delinsTC | ENSP00000507836.1:p.Cys77= | |
| ENST00000682470.1:c.231_232delinsTC | ENSP00000507654.1:p.Cys77= | |
| ENST00000682473.1:n.196_197delinsTC | ||
| ENST00000682482.1:c.231_232delinsTC | ENSP00000507903.1:p.Cys77= | |
| ENST00000682492.1:n.275_276delinsTC | ||
| ENST00000682493.1:c.231_232delinsTC | ENSP00000506778.1:p.Cys77= | |
| ENST00000682543.1:c.231_232delinsTC | ENSP00000507592.1:p.Cys77= | |
| ENST00000682561.1:n.240_241delinsTC | ||
| ENST00000682597.1:n.437_438delinsTC | ||
| ENST00000682658.1:c.231_232delinsTC | ENSP00000507773.1:p.Cys77= | |
| ENST00000682705.1:n.437_438delinsTC | ||
| ENST00000682723.1:c.-367_-366delinsTC | ENSP00000507115.1:n.-367_-366delinsTC | |
| ENST00000682735.1:c.231_232delinsTC | ENSP00000507007.1:p.Cys77= | |
| ENST00000682737.1:c.-367_-366delinsTC | ENSP00000506876.1:n.-367_-366delinsTC | |
| ENST00000682757.1:n.437_438delinsTC | ||
| ENST00000682855.1:c.231_232delinsTC | ENSP00000507027.1:p.Cys77= | |
| ENST00000682857.1:n.444_445delinsTC | ||
| ENST00000682875.1:c.231_232delinsTC | ENSP00000507771.1:p.Cys77= | |
| ENST00000682919.1:n.193_194delinsTC | ||
| ENST00000682930.1:c.156_157delinsTC | ENSP00000507981.1:p.Cys52= | |
| ENST00000682948.1:n.444_445delinsTC | ||
| ENST00000682960.1:n.444_445delinsTC | ||
| ENST00000683008.1:n.437_438delinsTC | ||
| ENST00000683020.1:c.231_232delinsTC | ENSP00000507944.1:p.Cys77= | |
| ENST00000683099.1:n.437_438delinsTC | ||
| ENST00000683170.1:n.375_376delinsTC | ||
| ENST00000683212.1:c.231_232delinsTC | ENSP00000507839.1:p.Cys77= | |
| ENST00000683248.1:n.437_438delinsTC | ||
| ENST00000683343.1:n.222_223delinsTC | ||
| ENST00000683347.1:n.222_223delinsTC | ||
| ENST00000683384.1:c.114_115delinsTC | ENSP00000508330.1:p.Cys38= | |
| ENST00000683396.1:n.437_438delinsTC | ||
| ENST00000683410.1:n.437_438delinsTC | ||
| ENST00000683485.1:n.444_445delinsTC | ||
| ENST00000683504.1:n.437_438delinsTC | ||
| ENST00000683533.1:c.-367_-366delinsTC | ENSP00000508296.1:n.-367_-366delinsTC | |
| ENST00000683609.1:n.444_445delinsTC | ||
| ENST00000683644.1:c.231_232delinsTC | ENSP00000507914.1:p.Cys77= | |
| ENST00000683660.1:n.444_445delinsTC | ||
| ENST00000683669.1:n.114_115delinsTC | ||
| ENST00000683690.1:c.231_232delinsTC | ENSP00000508152.1:p.Cys77= | |
| ENST00000683719.1:n.214_215delinsTC | ||
| ENST00000683757.1:n.220_221delinsTC | ||
| ENST00000683858.1:c.231_232delinsTC | ENSP00000507657.1:p.Cys77= | |
| ENST00000683875.1:c.118-3283_118-3282delinsTC | ENSP00000507602.1:n.118-3283_118-3282delinsTC | |
| ENST00000683904.1:n.444_445delinsTC | ||
| ENST00000683910.1:n.444_445delinsTC | ||
| ENST00000683959.1:c.-367_-366delinsTC | ENSP00000508309.1:n.-367_-366delinsTC | |
| ENST00000683976.1:c.231_232delinsTC | ENSP00000507183.1:p.Cys77= | |
| ENST00000683978.1:n.374_375delinsTC | ||
| ENST00000683992.1:c.231_232delinsTC | ENSP00000508144.1:p.Cys77= | |
| ENST00000684020.1:n.437_438delinsTC | ||
| ENST00000684044.1:n.444_445delinsTC | ||
| ENST00000684057.1:n.433_434delinsTC | ||
| ENST00000684076.1:n.402_403delinsTC | ||
| ENST00000684128.1:n.437_438delinsTC | ||
| ENST00000684194.1:n.437_438delinsTC | ||
| ENST00000684205.1:n.275_276delinsTC | ||
| ENST00000684246.1:c.231_232delinsTC | ENSP00000508273.1:p.Cys77= | |
| ENST00000684402.1:n.437_438delinsTC | ||
| ENST00000684446.1:n.444_445delinsTC | ||
| ENST00000684531.1:n.464_465delinsTC | ||
| ENST00000684635.1:c.231_232delinsTC | ENSP00000507335.1:p.Cys77= | |
| ENST00000684640.1:c.114_115delinsTC | ENSP00000507292.1:p.Cys38= | |
| ENST00000684673.1:c.231_232delinsTC | ENSP00000507746.1:p.Cys77= | |
| ENST00000684684.1:c.231_232delinsTC | ENSP00000507026.1:p.Cys77= | |
| ENST00000245157.11:c.231_232delinsTC MANE Select | ENSP00000245157.5:p.Cys77= | |
| ENST00000245157.9:c.231_232delinsTC | ENSP00000245157.5:p.Cys77= | |
| ENST00000565378.1:n.214_215delinsTC | ||
| ENST00000565781.5:n.245_246delinsTC | ||
| ENST00000566689.5:n.222_223delinsTC | ||
| ENST00000568104.5:c.231_232delinsTC | ENSP00000456289.1:p.Cys77= | |
| ENST00000569342.5:n.365_366delinsTC | ||
| ENST00000569941.5:c.-367_-366delinsTC | ENSP00000456741.1:n.-367_-366delinsTC | |
| NM_031885.3:c.231_232delinsTC | NP_114091.3:p.Cys77= | |
| XM_005256080.1:c.231_232delinsTC | XP_005256137.1:p.Cys77= | |
| XM_005256081.1:c.231_232delinsTC | XP_005256138.1:p.Cys77= | |
| XM_005256082.1:c.231_232delinsTC | XP_005256139.1:p.Cys77= | |
| XM_011523251.1:c.231_232delinsTC | XP_011521553.1:p.Cys77= | |
| XR_933378.1:n.464_465delinsTC | ||
| XR_933379.1:n.464_465delinsTC | ||
| XR_933380.1:n.464_465delinsTC | ||
| XM_005256080.2:c.231_232delinsTC | XP_005256137.1:p.Cys77= | |
| XR_001751958.1:n.464_465delinsTC | ||
| XR_001751959.2:n.464_465delinsTC | ||
| XR_001751960.1:n.464_465delinsTC | ||
| XR_001751961.1:n.464_465delinsTC | ||
| XR_933380.2:n.464_465delinsTC | ||
| NM_031885.4:c.231_232delinsTC | NP_114091.3:p.Cys77= | |
| NM_001377456.1:c.231_232delinsTC | NP_001364385.1:p.Cys77= | |
| NM_031885.5:c.231_232delinsTC MANE Select | NP_114091.4:p.Cys77= | |
| NR_165293.1:n.393_394delinsTC | ||
| NR_165294.1:n.393_394delinsTC | ||
| NR_165295.1:n.393_394delinsTC | ||
| NR_165296.1:n.393_394delinsTC | ||
| NR_165297.1:n.393_394delinsTC |