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_000011.10:g.17413097G= , CM000673.2:g.17413097G= | GRCh38 |
| NC_000011.9:g.17434644G= , CM000673.1:g.17434644G= | GRCh37 |
| NC_000011.8:g.17391220G= | NCBI36 |
| NG_008867.1:g.68806C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.2144+297C= | ||
| ENST00000529967.6:n.734+297C= | ||
| ENST00000642611.2:n.2544+297C= | ||
| ENST00000682051.1:n.2491+297C= | ||
| ENST00000682110.1:n.2544+297C= | ||
| ENST00000682140.1:c.2472+297C= | ENSP00000507829.1:n.2472+297C= | |
| ENST00000682185.1:n.3780+297C= | ||
| ENST00000682204.1:c.*613+297C= | ENSP00000507094.1:n.*613+297C= | |
| ENST00000682215.1:n.2541+297C= | ||
| ENST00000682288.1:c.*906+297C= | ENSP00000507506.1:n.*906+297C= | |
| ENST00000682442.1:n.2665+297C= | ||
| ENST00000682528.1:n.2541+297C= | ||
| ENST00000682673.1:n.2488+297C= | ||
| ENST00000682805.1:n.2541+297C= | ||
| ENST00000682965.1:c.2472+297C= | ENSP00000508229.1:n.2472+297C= | |
| ENST00000683093.1:n.2643+297C= | ||
| ENST00000683136.1:c.2472+297C= | ENSP00000507768.1:n.2472+297C= | |
| ENST00000683153.1:n.2700+297C= | ||
| ENST00000683365.1:n.2646+297C= | ||
| ENST00000683377.1:n.2544+297C= | ||
| ENST00000683456.1:c.2475+297C= | ENSP00000508318.1:n.2475+297C= | |
| ENST00000683522.1:n.2544+297C= | ||
| ENST00000683562.1:c.*644+297C= | ENSP00000508265.1:n.*644+297C= | |
| ENST00000683693.1:n.2541+297C= | ||
| ENST00000683725.1:c.2475+297C= | ENSP00000507496.1:n.2475+297C= | |
| ENST00000684010.1:n.2460-351C= | ||
| ENST00000684157.1:n.2544+297C= | ||
| ENST00000684253.1:n.2447+297C= | ||
| ENST00000684288.1:c.*647+297C= | ENSP00000507143.1:n.*647+297C= | |
| ENST00000684313.1:n.1976+297C= | ||
| ENST00000684332.1:n.2617+297C= | ||
| ENST00000684371.1:n.2650+297C= | ||
| ENST00000684404.1:n.2541+297C= | ||
| ENST00000684442.1:n.2544+297C= | ||
| ENST00000684555.1:c.*687+297C= | ENSP00000507705.1:n.*687+297C= | |
| ENST00000684571.1:c.2316+297C= | ENSP00000506935.1:n.2316+297C= | |
| ENST00000684593.1:c.*2180+297C= | ENSP00000507005.1:n.*2180+297C= | |
| ENST00000684711.1:c.*871+297C= | ENSP00000506841.1:n.*871+297C= | |
| ENST00000302539.9:c.2478+297C= | ENSP00000303960.4:n.2478+297C= | |
| ENST00000389817.8:c.2475+297C= MANE Select | ENSP00000374467.4:n.2475+297C= | |
| ENST00000642271.1:c.2472+297C= | ENSP00000493749.1:n.2472+297C= | |
| ENST00000642579.1:c.559+297C= | ||
| ENST00000642611.1:n.2429+297C= | ||
| ENST00000642902.1:c.2310+297C= | ||
| ENST00000643260.1:c.2475+297C= | ENSP00000494450.1:n.2475+297C= | |
| ENST00000643562.1:c.*451+297C= | ENSP00000496124.1:n.*451+297C= | |
| ENST00000643925.1:c.416-120C= | ||
| ENST00000644447.1:c.831+297C= | ENSP00000496282.1:n.831+297C= | |
| ENST00000644472.1:c.*836+297C= | ENSP00000495378.1:n.*836+297C= | |
| ENST00000644484.1:c.*684+297C= | ENSP00000493558.1:n.*684+297C= | |
| ENST00000644542.1:c.*2180+297C= | ENSP00000495532.1:n.*2180+297C= | |
| ENST00000644675.1:c.*647+297C= | ENSP00000494567.1:n.*647+297C= | |
| ENST00000644757.1:c.*780+297C= | ENSP00000495085.1:n.*780+297C= | |
| ENST00000644772.1:c.2541+297C= | ENSP00000494321.1:n.2541+297C= | |
| ENST00000645076.1:c.1727+297C= | ||
| ENST00000645744.1:c.*839+297C= | ENSP00000494564.1:n.*839+297C= | |
| ENST00000645760.1:c.2750+297C= | ||
| ENST00000645884.1:c.2475+297C= | ENSP00000495516.1:n.2475+297C= | |
| ENST00000646003.1:c.*532-351C= | ENSP00000495259.1:n.*532-351C= | |
| ENST00000646207.1:c.*839+297C= | ENSP00000495025.1:n.*839+297C= | |
| ENST00000646276.1:c.*748+297C= | ENSP00000496070.1:n.*748+297C= | |
| ENST00000646592.1:c.1701+297C= | ||
| ENST00000646902.1:c.2472+297C= | ENSP00000494101.1:n.2472+297C= | |
| ENST00000646993.1:c.*871+297C= | ENSP00000493720.1:n.*871+297C= | |
| ENST00000647013.1:c.2481+297C= | ENSP00000496741.1:n.2481+297C= | |
| ENST00000647015.1:c.2226+297C= | ENSP00000495389.1:n.2226+297C= | |
| ENST00000647086.1:c.*2205+297C= | ENSP00000493677.1:n.*2205+297C= | |
| ENST00000647158.1:c.*616+297C= | ENSP00000495744.1:n.*616+297C= | |
| ENST00000302539.8:c.2478+297C= | ENSP00000303960.4:n.2478+297C= | |
| ENST00000389817.7:c.2475+297C= | ENSP00000374467.3:n.2475+297C= | |
| ENST00000526921.5:n.159+297C= | ||
| ENST00000527905.5:c.2445+297C= | ENSP00000431653.1:n.2445+297C= | |
| ENST00000529967.5:n.144+297C= | ||
| ENST00000530147.5:n.59-351C= | ||
| ENST00000531911.1:n.589+297C= | ||
| NM_000352.4:c.2475+297C= | NP_000343.2:n.2475+297C= | |
| NM_001287174.1:c.2478+297C= | NP_001274103.1:n.2478+297C= | |
| XM_011520331.1:c.2475+297C= | XP_011518633.1:n.2475+297C= | |
| XM_011520332.1:c.2478+297C= | XP_011518634.1:n.2478+297C= | |
| XM_011520333.1:c.975+297C= | XP_011518635.1:n.975+297C= | |
| XM_011520334.1:c.2478+297C= | XP_011518636.1:n.2478+297C= | |
| XR_930890.1:n.2541+297C= | ||
| XR_930891.1:n.2541+297C= | ||
| XR_930892.1:n.2541+297C= | ||
| XR_930893.1:n.2538+297C= | ||
| NM_001351295.1:c.2541+297C= | NP_001338224.1:n.2541+297C= | |
| NM_001351296.1:c.2475+297C= | NP_001338225.1:n.2475+297C= | |
| NM_001351297.1:c.2472+297C= | NP_001338226.1:n.2472+297C= | |
| NR_147094.1:n.2544+297C= | ||
| XM_017018197.2:c.2544+297C= | XP_016873686.1:n.2544+297C= | |
| XM_017018199.1:c.2541+297C= | XP_016873688.1:n.2541+297C= | |
| XM_017018201.2:c.2544+297C= | XP_016873690.1:n.2544+297C= | |
| XM_017018202.1:c.1041+297C= | XP_016873691.1:n.1041+297C= | |
| XM_017018204.1:c.432+297C= | XP_016873693.1:n.432+297C= | |
| XM_024448668.1:c.843+297C= | XP_024304436.1:n.843+297C= | |
| XR_001747945.2:n.2616+297C= | ||
| XR_001747946.2:n.2547+297C= | ||
| XR_002957189.1:n.2616+297C= | ||
| NM_000352.6:c.2475+297C= MANE Select | NP_000343.2:n.2475+297C= | |
| NM_001287174.2:c.2478+297C= | NP_001274103.1:n.2478+297C= | |
| NM_001351295.2:c.2541+297C= | NP_001338224.1:n.2541+297C= | |
| NM_001351296.2:c.2475+297C= | NP_001338225.1:n.2475+297C= | |
| NM_001351297.2:c.2472+297C= | NP_001338226.1:n.2472+297C= | |
| NR_147094.2:n.2544+297C= | ||
| NM_001287174.3:c.2478+297C= | NP_001274103.1:n.2478+297C= |