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.17395182T= , CM000673.2:g.17395182T= | GRCh38 |
| NC_000011.9:g.17416729T= , CM000673.1:g.17416729T= | GRCh37 |
| NC_000011.8:g.17373305T= | NCBI36 |
| NG_008867.1:g.86721A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4002A= | ||
| ENST00000526037.6:n.336A= | ||
| ENST00000528374.2:c.992A= | ||
| ENST00000529967.6:n.2740A= | ||
| ENST00000532220.2:n.3634A= | ||
| ENST00000642611.2:n.5734A= | ||
| ENST00000644057.2:n.977A= | ||
| ENST00000645004.2:n.1900A= | ||
| ENST00000682051.1:n.4563A= | ||
| ENST00000682110.1:n.4616A= | ||
| ENST00000682140.1:c.*187A= | ENSP00000507829.1:n.*187A= | |
| ENST00000682185.1:n.5706A= | ||
| ENST00000682204.1:c.*2539A= | ENSP00000507094.1:n.*2539A= | |
| ENST00000682215.1:n.4983A= | ||
| ENST00000682288.1:c.*2832A= | ENSP00000507506.1:n.*2832A= | |
| ENST00000682442.1:n.4836A= | ||
| ENST00000682528.1:n.4693A= | ||
| ENST00000682673.1:n.4560A= | ||
| ENST00000682805.1:n.5021A= | ||
| ENST00000682965.1:c.*823A= | ENSP00000508229.1:n.*823A= | |
| ENST00000683093.1:n.5606+428A= | ||
| ENST00000683136.1:c.4284A= | ENSP00000507768.1:p.Pro1428= | |
| ENST00000683153.1:n.4658A= | ||
| ENST00000683365.1:n.4718A= | ||
| ENST00000683377.1:n.4522+428A= | ||
| ENST00000683456.1:c.*1538A= | ENSP00000508318.1:n.*1538A= | |
| ENST00000683522.1:n.4616A= | ||
| ENST00000683562.1:c.*2476+428A= | ENSP00000508265.1:n.*2476+428A= | |
| ENST00000683693.1:n.6087+428A= | ||
| ENST00000683725.1:c.4307+428A= | ENSP00000507496.1:n.4307+428A= | |
| ENST00000684010.1:n.4611A= | ||
| ENST00000684157.1:n.5601A= | ||
| ENST00000684253.1:n.4519A= | ||
| ENST00000684288.1:c.*2573A= | ENSP00000507143.1:n.*2573A= | |
| ENST00000684313.1:n.4048A= | ||
| ENST00000684332.1:n.4689A= | ||
| ENST00000684371.1:n.4722A= | ||
| ENST00000684404.1:n.5644A= | ||
| ENST00000684442.1:n.4840A= | ||
| ENST00000684555.1:c.*2613A= | ENSP00000507705.1:n.*2613A= | |
| ENST00000684571.1:c.4242A= | ENSP00000506935.1:p.Pro1414= | |
| ENST00000684593.1:c.*4106A= | ENSP00000507005.1:n.*4106A= | |
| ENST00000684711.1:c.*2797A= | ENSP00000506841.1:n.*2797A= | |
| ENST00000302539.9:c.4404A= | ENSP00000303960.4:p.Pro1468= | |
| ENST00000389817.8:c.4401A= MANE Select | ENSP00000374467.4:p.Pro1467= | |
| ENST00000642271.1:c.4398A= | ENSP00000493749.1:p.Pro1466= | |
| ENST00000642579.1:c.2455A= | ||
| ENST00000642611.1:n.5619A= | ||
| ENST00000642902.1:c.4183A= | ||
| ENST00000643260.1:c.4401A= | ENSP00000494450.1:p.Pro1467= | |
| ENST00000643562.1:c.*2523A= | ENSP00000496124.1:n.*2523A= | |
| ENST00000643925.1:c.3041A= | ||
| ENST00000644057.1:n.478A= | ||
| ENST00000644484.1:c.*3787A= | ENSP00000493558.1:n.*3787A= | |
| ENST00000644675.1:c.*2573A= | ENSP00000494567.1:n.*2573A= | |
| ENST00000644757.1:c.*3202+1082A= | ENSP00000495085.1:n.*3202+1082A= | |
| ENST00000644772.1:c.4467A= | ENSP00000494321.1:p.Pro1489= | |
| ENST00000645004.1:n.2094A= | ||
| ENST00000645076.1:c.3506+428A= | ||
| ENST00000645417.1:c.1589A= | ||
| ENST00000645744.1:c.*4086A= | ENSP00000494564.1:n.*4086A= | |
| ENST00000645760.1:c.4822A= | ||
| ENST00000645884.1:c.*1684A= | ENSP00000495516.1:n.*1684A= | |
| ENST00000646003.1:c.*2423A= | ENSP00000495259.1:n.*2423A= | |
| ENST00000646207.1:c.*3238A= | ENSP00000495025.1:n.*3238A= | |
| ENST00000646276.1:c.*3805A= | ENSP00000496070.1:n.*3805A= | |
| ENST00000646592.1:c.3707A= | ||
| ENST00000646902.1:c.4368A= | ENSP00000494101.1:p.Pro1456= | |
| ENST00000646993.1:c.*2849+428A= | ENSP00000493720.1:n.*2849+428A= | |
| ENST00000647013.1:c.4407A= | ENSP00000496741.1:n.4407A= | |
| ENST00000647015.1:c.4152A= | ENSP00000495389.1:p.Pro1384= | |
| ENST00000647086.1:c.*3987A= | ENSP00000493677.1:n.*3987A= | |
| ENST00000647158.1:c.*2688A= | ENSP00000495744.1:n.*2688A= | |
| ENST00000302539.8:c.4404A= | ENSP00000303960.4:p.Pro1468= | |
| ENST00000389817.7:c.4401A= | ENSP00000374467.3:p.Pro1467= | |
| ENST00000525022.1:n.306+428A= | ||
| ENST00000526037.5:n.171+428A= | ||
| ENST00000526168.5:c.189A= | ||
| ENST00000531642.5:c.432A= | ||
| NM_000352.4:c.4401A= | NP_000343.2:p.Pro1467= | |
| NM_001287174.1:c.4404A= | NP_001274103.1:p.Pro1468= | |
| XM_011520331.1:c.4401A= | XP_011518633.1:p.Pro1467= | |
| XM_011520332.1:c.4310+428A= | XP_011518634.1:n.4310+428A= | |
| XM_011520333.1:c.2901A= | XP_011518635.1:p.Pro967= | |
| XR_930890.1:n.4373+428A= | ||
| NM_001351295.1:c.4467A= | NP_001338224.1:p.Pro1489= | |
| NM_001351296.1:c.4401A= | NP_001338225.1:p.Pro1467= | |
| NM_001351297.1:c.4398A= | NP_001338226.1:p.Pro1466= | |
| NR_147094.1:n.4696A= | ||
| XM_017018197.2:c.4470A= | XP_016873686.1:p.Pro1490= | |
| XM_017018199.1:c.4467A= | XP_016873688.1:p.Pro1489= | |
| XM_017018201.2:c.4376+428A= | XP_016873690.1:n.4376+428A= | |
| XM_017018202.1:c.2967A= | XP_016873691.1:p.Pro989= | |
| XM_017018204.1:c.2358A= | XP_016873693.1:p.Pro786= | |
| XM_024448668.1:c.2769A= | XP_024304436.1:p.Pro923= | |
| XR_001747945.2:n.4448+428A= | ||
| XR_001747946.2:n.4379+428A= | ||
| XR_002957189.1:n.6162+428A= | ||
| NM_000352.6:c.4401A= MANE Select | NP_000343.2:p.Pro1467= | |
| NM_001287174.2:c.4404A= | NP_001274103.1:p.Pro1468= | |
| NM_001351295.2:c.4467A= | NP_001338224.1:p.Pro1489= | |
| NM_001351296.2:c.4401A= | NP_001338225.1:p.Pro1467= | |
| NM_001351297.2:c.4398A= | NP_001338226.1:p.Pro1466= | |
| NR_147094.2:n.4696A= | ||
| NM_001287174.3:c.4404A= | NP_001274103.1:p.Pro1468= |