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 allow 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 allow 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_000001.11:g.75735166_75735167insAAAAAAAAAAAA , CM000663.2:g.75735166_75735167insAAAAAAAAAAAA | GRCh38 |
| NC_000001.10:g.76200851_76200852insAAAAAAAAAAAA , CM000663.1:g.76200851_76200852insAAAAAAAAAAAA | GRCh37 |
| NC_000001.9:g.75973439_75973440insAAAAAAAAAAAA | NCBI36 |
| NG_007045.2:g.15809_15810insAAAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370841.9:c.468+295_468+296insAAAAAAAAAAAA MANE Select | ENSP00000359878.5:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000473018.3:n.2592+295_2592+296insAAAAAAAAAAAA | ||
| ENST00000541113.6:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000442324.2:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000679509.1:n.1430+295_1430+296insAAAAAAAAAAAA | ||
| ENST00000679530.1:c.*236+295_*236+296insAAAAAAAAAAAA | ENSP00000506454.1:n.*236+295_*236+296insAAAAAAAAAAAA | |
| ENST00000679615.1:n.2592+295_2592+296insAAAAAAAAAAAA | ||
| ENST00000679687.1:c.31-4814_31-4813insAAAAAAAAAAAA | ENSP00000506598.1:n.31-4814_31-4813insAAAAAAAAAAAA | |
| ENST00000679704.1:c.*234+295_*234+296insAAAAAAAAAAAA | ENSP00000505117.1:n.*234+295_*234+296insAAAAAAAAAAAA | |
| ENST00000679709.1:c.*431+295_*431+296insAAAAAAAAAAAA | ENSP00000506623.1:n.*431+295_*431+296insAAAAAAAAAAAA | |
| ENST00000679804.1:n.207+2244_207+2245insAAAAAAAAAAAA | ||
| ENST00000679976.1:c.*52+295_*52+296insAAAAAAAAAAAA | ENSP00000505565.1:n.*52+295_*52+296insAAAAAAAAAAAA | |
| ENST00000680166.1:n.3757+295_3757+296insAAAAAAAAAAAA | ||
| ENST00000680517.1:c.286+2244_286+2245insAAAAAAAAAAAA | ENSP00000505803.1:n.286+2244_286+2245insAAAAAAAAAAAA | |
| ENST00000680582.1:n.1430+295_1430+296insAAAAAAAAAAAA | ||
| ENST00000680613.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000506114.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000680662.1:c.*382+295_*382+296insAAAAAAAAAAAA | ENSP00000505080.1:n.*382+295_*382+296insAAAAAAAAAAAA | |
| ENST00000680691.1:c.*131+295_*131+296insAAAAAAAAAAAA | ENSP00000506487.1:n.*131+295_*131+296insAAAAAAAAAAAA | |
| ENST00000680694.1:c.*56+291_*56+292insAAAAAAAAAAAA | ENSP00000505658.1:n.*56+291_*56+292insAAAAAAAAAAAA | |
| ENST00000680743.1:c.*135+295_*135+296insAAAAAAAAAAAA | ENSP00000505073.1:n.*135+295_*135+296insAAAAAAAAAAAA | |
| ENST00000680749.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000505122.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000680798.1:c.*52+295_*52+296insAAAAAAAAAAAA | ENSP00000505670.1:n.*52+295_*52+296insAAAAAAAAAAAA | |
| ENST00000680805.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000505447.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000680844.1:c.*252+295_*252+296insAAAAAAAAAAAA | ENSP00000506541.1:n.*252+295_*252+296insAAAAAAAAAAAA | |
| ENST00000680948.1:c.*335+295_*335+296insAAAAAAAAAAAA | ENSP00000505441.1:n.*335+295_*335+296insAAAAAAAAAAAA | |
| ENST00000680964.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000505961.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000681037.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000506025.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000681063.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000506616.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000681209.1:c.*232+295_*232+296insAAAAAAAAAAAA | ENSP00000505877.1:n.*232+295_*232+296insAAAAAAAAAAAA | |
| ENST00000681278.1:n.825+295_825+296insAAAAAAAAAAAA | ||
| ENST00000681289.1:n.825+295_825+296insAAAAAAAAAAAA | ||
| ENST00000681361.1:c.*135+295_*135+296insAAAAAAAAAAAA | ENSP00000506679.1:n.*135+295_*135+296insAAAAAAAAAAAA | |
| ENST00000681430.1:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000506301.1:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000681446.1:c.*50+297_*50+298insAAAAAAAAAAAA | ENSP00000506244.1:n.*50+297_*50+298insAAAAAAAAAAAA | |
| ENST00000681450.1:c.*139+291_*139+292insAAAAAAAAAAAA | ENSP00000505660.1:n.*139+291_*139+292insAAAAAAAAAAAA | |
| ENST00000681548.1:c.*54+2244_*54+2245insAAAAAAAAAAAA | ENSP00000505275.1:n.*54+2244_*54+2245insAAAAAAAAAAAA | |
| ENST00000681616.1:c.*236+295_*236+296insAAAAAAAAAAAA | ENSP00000505111.1:n.*236+295_*236+296insAAAAAAAAAAAA | |
| ENST00000681621.1:c.*52+295_*52+296insAAAAAAAAAAAA | ENSP00000505770.1:n.*52+295_*52+296insAAAAAAAAAAAA | |
| ENST00000681680.1:n.2592+295_2592+296insAAAAAAAAAAAA | ||
| ENST00000681720.1:c.*54+2244_*54+2245insAAAAAAAAAAAA | ENSP00000505438.1:n.*54+2244_*54+2245insAAAAAAAAAAAA | |
| ENST00000681730.1:n.690+295_690+296insAAAAAAAAAAAA | ||
| ENST00000681790.1:c.210+295_210+296insAAAAAAAAAAAA | ENSP00000505130.1:n.210+295_210+296insAAAAAAAAAAAA | |
| ENST00000681837.1:n.1084+295_1084+296insAAAAAAAAAAAA | ||
| ENST00000681913.1:n.2592+295_2592+296insAAAAAAAAAAAA | ||
| ENST00000681916.1:c.*236+295_*236+296insAAAAAAAAAAAA | ENSP00000506477.1:n.*236+295_*236+296insAAAAAAAAAAAA | |
| ENST00000681930.1:n.2592+295_2592+296insAAAAAAAAAAAA | ||
| ENST00000370834.9:c.567+295_567+296insAAAAAAAAAAAA | ENSP00000359871.5:n.567+295_567+296insAAAAAAAAAAAA | |
| ENST00000370841.8:c.468+295_468+296insAAAAAAAAAAAA | ENSP00000359878.4:n.468+295_468+296insAAAAAAAAAAAA | |
| ENST00000420607.6:c.480+295_480+296insAAAAAAAAAAAA | ENSP00000409612.2:n.480+295_480+296insAAAAAAAAAAAA | |
| ENST00000525808.5:c.*54+2244_*54+2245insAAAAAAAAAAAA | ENSP00000434823.1:n.*54+2244_*54+2245insAAAAAAAAAAAA | |
| ENST00000526129.5:c.*252+295_*252+296insAAAAAAAAAAAA | ENSP00000434092.1:n.*252+295_*252+296insAAAAAAAAAAAA | |
| ENST00000526196.5:c.*236+295_*236+296insAAAAAAAAAAAA | ENSP00000431953.1:n.*236+295_*236+296insAAAAAAAAAAAA | |
| ENST00000526930.1:n.241+295_241+296insAAAAAAAAAAAA | ||
| ENST00000529059.5:n.377+295_377+296insAAAAAAAAAAAA | ||
| ENST00000530953.6:c.119-4814_119-4813insAAAAAAAAAAAA | ENSP00000431372.1:n.119-4814_119-4813insAAAAAAAAAAAA | |
| ENST00000532509.5:c.*232+295_*232+296insAAAAAAAAAAAA | ENSP00000432522.1:n.*232+295_*232+296insAAAAAAAAAAAA | |
| ENST00000534334.5:c.*52+295_*52+296insAAAAAAAAAAAA | ENSP00000435584.1:n.*52+295_*52+296insAAAAAAAAAAAA | |
| ENST00000541113.5:c.360+295_360+296insAAAAAAAAAAAA | ENSP00000442324.1:n.360+295_360+296insAAAAAAAAAAAA | |
| NM_000016.5:c.468+295_468+296insAAAAAAAAAAAA | NP_000007.1:n.468+295_468+296insAAAAAAAAAAAA | |
| NM_001127328.2:c.480+295_480+296insAAAAAAAAAAAA | NP_001120800.1:n.480+295_480+296insAAAAAAAAAAAA | |
| NM_001286042.1:c.360+295_360+296insAAAAAAAAAAAA | NP_001272971.1:n.360+295_360+296insAAAAAAAAAAAA | |
| NM_001286043.1:c.567+295_567+296insAAAAAAAAAAAA | NP_001272972.1:n.567+295_567+296insAAAAAAAAAAAA | |
| NM_001286044.1:c.-100+2244_-100+2245insAAAAAAAAAAAA | NP_001272973.1:n.-100+2244_-100+2245insAAAAAAAAAAAA | |
| NM_000016.6:c.468+295_468+296insAAAAAAAAAAAA MANE Select | NP_000007.1:n.468+295_468+296insAAAAAAAAAAAA | |
| NM_001127328.3:c.480+295_480+296insAAAAAAAAAAAA | NP_001120800.1:n.480+295_480+296insAAAAAAAAAAAA | |
| NM_001286042.2:c.360+295_360+296insAAAAAAAAAAAA | NP_001272971.1:n.360+295_360+296insAAAAAAAAAAAA | |
| NM_001286043.2:c.567+295_567+296insAAAAAAAAAAAA | NP_001272972.1:n.567+295_567+296insAAAAAAAAAAAA | |
| NM_001286044.2:c.-100+2244_-100+2245insAAAAAAAAAAAA | NP_001272973.1:n.-100+2244_-100+2245insAAAAAAAAAAAA |