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.17394151A= , CM000673.2:g.17394151A= | GRCh38 |
| NC_000011.9:g.17415698A= , CM000673.1:g.17415698A= | GRCh37 |
| NC_000011.8:g.17372274A= | NCBI36 |
| NG_008867.1:g.87752T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.4146+115T= | ||
| ENST00000526037.6:n.480+115T= | ||
| ENST00000528374.2:c.1136+115T= | ||
| ENST00000529967.6:n.2884+115T= | ||
| ENST00000532220.2:n.3778+115T= | ||
| ENST00000642611.2:n.5878+115T= | ||
| ENST00000644057.2:n.1121+115T= | ||
| ENST00000645004.2:n.2044+115T= | ||
| ENST00000682051.1:n.4707+115T= | ||
| ENST00000682110.1:n.4760+115T= | ||
| ENST00000682140.1:c.*331+115T= | ENSP00000507829.1:n.*331+115T= | |
| ENST00000682185.1:n.5850+115T= | ||
| ENST00000682204.1:c.*2683+115T= | ENSP00000507094.1:n.*2683+115T= | |
| ENST00000682215.1:n.5127+115T= | ||
| ENST00000682288.1:c.*2976+115T= | ENSP00000507506.1:n.*2976+115T= | |
| ENST00000682442.1:n.4980+115T= | ||
| ENST00000682528.1:n.4837+115T= | ||
| ENST00000682673.1:n.4704+115T= | ||
| ENST00000682805.1:n.5165+115T= | ||
| ENST00000682965.1:c.*967+115T= | ENSP00000508229.1:n.*967+115T= | |
| ENST00000683093.1:n.5740+115T= | ||
| ENST00000683136.1:c.4428+115T= | ENSP00000507768.1:n.4428+115T= | |
| ENST00000683153.1:n.4802+115T= | ||
| ENST00000683365.1:n.4862+115T= | ||
| ENST00000683377.1:n.4656+115T= | ||
| ENST00000683456.1:c.*1682+115T= | ENSP00000508318.1:n.*1682+115T= | |
| ENST00000683522.1:n.4842+115T= | ||
| ENST00000683562.1:c.*2610+115T= | ENSP00000508265.1:n.*2610+115T= | |
| ENST00000683693.1:n.6221+115T= | ||
| ENST00000683725.1:c.*10+115T= | ENSP00000507496.1:n.*10+115T= | |
| ENST00000684010.1:n.4755+115T= | ||
| ENST00000684014.1:n.732+115T= | ||
| ENST00000684157.1:n.5745+115T= | ||
| ENST00000684253.1:n.4663+115T= | ||
| ENST00000684288.1:c.*2717+115T= | ENSP00000507143.1:n.*2717+115T= | |
| ENST00000684313.1:n.4192+115T= | ||
| ENST00000684332.1:n.4833+115T= | ||
| ENST00000684371.1:n.4866+115T= | ||
| ENST00000684404.1:n.5788+115T= | ||
| ENST00000684442.1:n.4984+115T= | ||
| ENST00000684555.1:c.*2757+115T= | ENSP00000507705.1:n.*2757+115T= | |
| ENST00000684571.1:c.4386+115T= | ENSP00000506935.1:n.4386+115T= | |
| ENST00000684593.1:c.*4250+115T= | ENSP00000507005.1:n.*4250+115T= | |
| ENST00000684711.1:c.*2941+115T= | ENSP00000506841.1:n.*2941+115T= | |
| ENST00000302539.9:c.4548+115T= | ENSP00000303960.4:n.4548+115T= | |
| ENST00000389817.8:c.4545+115T= MANE Select | ENSP00000374467.4:n.4545+115T= | |
| ENST00000642271.1:c.4542+115T= | ENSP00000493749.1:n.4542+115T= | |
| ENST00000642579.1:c.2599+115T= | ||
| ENST00000642611.1:n.5763+115T= | ||
| ENST00000642902.1:c.4327+115T= | ||
| ENST00000643260.1:c.4545+115T= | ENSP00000494450.1:n.4545+115T= | |
| ENST00000643562.1:c.*2667+115T= | ENSP00000496124.1:n.*2667+115T= | |
| ENST00000643925.1:c.3185+115T= | ||
| ENST00000644057.1:n.704+115T= | ||
| ENST00000644484.1:c.*3931+115T= | ENSP00000493558.1:n.*3931+115T= | |
| ENST00000644675.1:c.*2717+115T= | ENSP00000494567.1:n.*2717+115T= | |
| ENST00000644757.1:c.*3203-1171T= | ENSP00000495085.1:n.*3203-1171T= | |
| ENST00000644772.1:c.4611+115T= | ENSP00000494321.1:n.4611+115T= | |
| ENST00000645004.1:n.2238+115T= | ||
| ENST00000645076.1:c.3640+115T= | ||
| ENST00000645417.1:c.1733+115T= | ||
| ENST00000645744.1:c.*4230+115T= | ENSP00000494564.1:n.*4230+115T= | |
| ENST00000645760.1:c.4966+115T= | ||
| ENST00000645884.1:c.*1828+115T= | ENSP00000495516.1:n.*1828+115T= | |
| ENST00000646003.1:c.*2567+115T= | ENSP00000495259.1:n.*2567+115T= | |
| ENST00000646207.1:c.*3382+115T= | ENSP00000495025.1:n.*3382+115T= | |
| ENST00000646276.1:c.*3949+115T= | ENSP00000496070.1:n.*3949+115T= | |
| ENST00000646592.1:c.3851+115T= | ||
| ENST00000646902.1:c.4512+115T= | ENSP00000494101.1:n.4512+115T= | |
| ENST00000646993.1:c.*2983+115T= | ENSP00000493720.1:n.*2983+115T= | |
| ENST00000647015.1:c.4296+115T= | ENSP00000495389.1:n.4296+115T= | |
| ENST00000647086.1:c.*4131+115T= | ENSP00000493677.1:n.*4131+115T= | |
| ENST00000647158.1:c.*2832+115T= | ENSP00000495744.1:n.*2832+115T= | |
| ENST00000302539.8:c.4548+115T= | ENSP00000303960.4:n.4548+115T= | |
| ENST00000389817.7:c.4545+115T= | ENSP00000374467.3:n.4545+115T= | |
| ENST00000525022.1:n.440+115T= | ||
| ENST00000526037.5:n.305+115T= | ||
| ENST00000526168.5:c.333+115T= | ||
| ENST00000531642.5:c.576+115T= | ||
| NM_000352.4:c.4545+115T= | NP_000343.2:n.4545+115T= | |
| NM_001287174.1:c.4548+115T= | NP_001274103.1:n.4548+115T= | |
| XM_011520331.1:c.4545+115T= | XP_011518633.1:n.4545+115T= | |
| XM_011520333.1:c.3045+115T= | XP_011518635.1:n.3045+115T= | |
| XR_930890.1:n.4507+115T= | ||
| NM_001351295.1:c.4611+115T= | NP_001338224.1:n.4611+115T= | |
| NM_001351296.1:c.4545+115T= | NP_001338225.1:n.4545+115T= | |
| NM_001351297.1:c.4542+115T= | NP_001338226.1:n.4542+115T= | |
| NR_147094.1:n.4840+115T= | ||
| XM_017018197.2:c.4614+115T= | XP_016873686.1:n.4614+115T= | |
| XM_017018199.1:c.4611+115T= | XP_016873688.1:n.4611+115T= | |
| XM_017018202.1:c.3111+115T= | XP_016873691.1:n.3111+115T= | |
| XM_017018204.1:c.2502+115T= | XP_016873693.1:n.2502+115T= | |
| XM_024448668.1:c.2913+115T= | XP_024304436.1:n.2913+115T= | |
| XR_001747945.2:n.4582+115T= | ||
| XR_001747946.2:n.4513+115T= | ||
| XR_002957189.1:n.6296+115T= | ||
| NM_000352.6:c.4545+115T= MANE Select | NP_000343.2:n.4545+115T= | |
| NM_001287174.2:c.4548+115T= | NP_001274103.1:n.4548+115T= | |
| NM_001351295.2:c.4611+115T= | NP_001338224.1:n.4611+115T= | |
| NM_001351296.2:c.4545+115T= | NP_001338225.1:n.4545+115T= | |
| NM_001351297.2:c.4542+115T= | NP_001338226.1:n.4542+115T= | |
| NR_147094.2:n.4840+115T= | ||
| NM_001287174.3:c.4548+115T= | NP_001274103.1:n.4548+115T= |