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_000020.11:g.58891898_58891899delinsCG , CM000682.2:g.58891898_58891899delinsCG | GRCh38 |
| NC_000020.10:g.57466953_57466954delinsCG , CM000682.1:g.57466953_57466954delinsCG | GRCh37 |
| NC_000020.9:g.56900348_56900349delinsCG | NCBI36 |
| NG_016194.1:g.57159_57160delinsCG | |
| NG_016194.2:g.57159_57160delinsCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3714_2069-3713delinsCG | ENSP00000265621.6:n.2069-3714_2069-3713delinsCG | |
| ENST00000419558.7:c.*43-3714_*43-3713delinsCG | ENSP00000416234.2:n.*43-3714_*43-3713delinsCG | |
| ENST00000423897.7:c.2069-3714_2069-3713delinsCG | ENSP00000412356.2:n.2069-3714_2069-3713delinsCG | |
| ENST00000453292.7:c.781-3714_781-3713delinsCG | ENSP00000392000.2:n.781-3714_781-3713delinsCG | |
| ENST00000462499.6:c.-38-3714_-38-3713delinsCG | ENSP00000499758.2:n.-38-3714_-38-3713delinsCG | |
| ENST00000464624.7:c.2160-3714_2160-3713delinsCG | ENSP00000499607.2:n.2160-3714_2160-3713delinsCG | |
| ENST00000464788.6:c.-39+2685_-39+2686delinsCG | ENSP00000499239.2:n.-39+2685_-39+2686delinsCG | |
| ENST00000467227.6:c.-38-3714_-38-3713delinsCG | ENSP00000499681.2:n.-38-3714_-38-3713delinsCG | |
| ENST00000467321.6:c.-39+2852_-39+2853delinsCG | ENSP00000499523.2:n.-39+2852_-39+2853delinsCG | |
| ENST00000468895.6:c.139+33_139+34delinsCG | ENSP00000499551.2:n.139+33_139+34delinsCG | |
| ENST00000469431.6:c.-39+2492_-39+2493delinsCG | ENSP00000499654.2:n.-39+2492_-39+2493delinsCG | |
| ENST00000470512.6:c.-39+2545_-39+2546delinsCG | ENSP00000499552.2:n.-39+2545_-39+2546delinsCG | |
| ENST00000472183.6:c.-38-3714_-38-3713delinsCG | ENSP00000499673.2:n.-38-3714_-38-3713delinsCG | |
| ENST00000478585.6:c.-39+2545_-39+2546delinsCG | ENSP00000499762.2:n.-39+2545_-39+2546delinsCG | |
| ENST00000480232.6:c.-39+2349_-39+2350delinsCG | ENSP00000499545.2:n.-39+2349_-39+2350delinsCG | |
| ENST00000481039.6:c.-39+2990_-39+2991delinsCG | ENSP00000499767.2:n.-39+2990_-39+2991delinsCG | |
| ENST00000482112.6:c.-38-3714_-38-3713delinsCG | ENSP00000499794.2:n.-38-3714_-38-3713delinsCG | |
| ENST00000485673.6:c.-39+2349_-39+2350delinsCG | ENSP00000499334.2:n.-39+2349_-39+2350delinsCG | |
| ENST00000488546.6:c.-39+3080_-39+3081delinsCG | ENSP00000499332.2:n.-39+3080_-39+3081delinsCG | |
| ENST00000604005.6:c.-39+2566_-39+2567delinsCG | ENSP00000474219.2:n.-39+2566_-39+2567delinsCG | |
| ENST00000663479.2:c.-38-3714_-38-3713delinsCG | ENSP00000499353.2:n.-38-3714_-38-3713delinsCG | |
| ENST00000667293.2:c.-39+2994_-39+2995delinsCG | ENSP00000499293.2:n.-39+2994_-39+2995delinsCG | |
| ENST00000676826.2:c.2069-3714_2069-3713delinsCG | ENSP00000504675.2:n.2069-3714_2069-3713delinsCG | |
| ENST00000682803.1:c.-366+33_-366+34delinsCG | ENSP00000507069.1:n.-366+33_-366+34delinsCG | |
| ENST00000683015.1:c.909+1109_909+1110delinsCG | ENSP00000506815.1:n.909+1109_909+1110delinsCG | |
| ENST00000306090.12:c.44-3714_44-3713delinsCG | ENSP00000304472.12:n.44-3714_44-3713delinsCG | |
| ENST00000338783.7:c.139+33_139+34delinsCG | ENSP00000345971.7:n.139+33_139+34delinsCG | |
| ENST00000349036.8:c.2069-3714_2069-3713delinsCG | ENSP00000265621.5:n.2069-3714_2069-3713delinsCG | |
| ENST00000354359.12:c.139+33_139+34delinsCG | ENSP00000346328.7:n.139+33_139+34delinsCG | |
| ENST00000371085.8:c.139+33_139+34delinsCG MANE Select | ENSP00000360126.3:n.139+33_139+34delinsCG | |
| ENST00000371100.9:c.2069-3714_2069-3713delinsCG MANE Plus Clinical | ENSP00000360141.3:n.2069-3714_2069-3713delinsCG | |
| ENST00000419558.6:c.*43-3714_*43-3713delinsCG | ENSP00000416234.2:n.*43-3714_*43-3713delinsCG | |
| ENST00000423897.6:c.2069-3714_2069-3713delinsCG | ENSP00000412356.2:n.2069-3714_2069-3713delinsCG | |
| ENST00000453292.6:c.*43-3714_*43-3713delinsCG | ENSP00000392000.2:n.*43-3714_*43-3713delinsCG | |
| ENST00000461152.6:c.909+1109_909+1110delinsCG | ENSP00000499274.1:n.909+1109_909+1110delinsCG | |
| ENST00000481768.6:c.2227-3714_2227-3713delinsCG | ENSP00000499644.2:n.2227-3714_2227-3713delinsCG | |
| ENST00000490374.6:n.223-3714_223-3713delinsCG | ||
| ENST00000657090.1:c.-38-3714_-38-3713delinsCG | ENSP00000499380.1:n.-38-3714_-38-3713delinsCG | |
| ENST00000663479.1:c.-38-3714_-38-3713delinsCG | ENSP00000499353.1:n.-38-3714_-38-3713delinsCG | |
| ENST00000667293.1:c.11-3714_11-3713delinsCG | ENSP00000499293.1:n.11-3714_11-3713delinsCG | |
| ENST00000676826.1:c.2069-3714_2069-3713delinsCG | ENSP00000504675.1:n.2069-3714_2069-3713delinsCG | |
| ENST00000265620.11:c.139+33_139+34delinsCG | ENSP00000265620.7:n.139+33_139+34delinsCG | |
| ENST00000306090.11:c.93+79_93+80delinsCG | ENSP00000304472.11:n.93+79_93+80delinsCG | |
| ENST00000313949.11:c.*43-3714_*43-3713delinsCG | ENSP00000323571.7:n.*43-3714_*43-3713delinsCG | |
| ENST00000338783.6:c.106+33_106+34delinsCG | ENSP00000345971.6:n.106+33_106+34delinsCG | |
| ENST00000349036.7:c.188-3714_188-3713delinsCG | ENSP00000265621.4:n.188-3714_188-3713delinsCG | |
| ENST00000354359.11:c.139+33_139+34delinsCG | ENSP00000346328.7:n.139+33_139+34delinsCG | |
| ENST00000371075.7:c.*43-3714_*43-3713delinsCG MANE Plus Clinical | ENSP00000360115.3:n.*43-3714_*43-3713delinsCG | |
| ENST00000371081.5:c.139+33_139+34delinsCG | ENSP00000360122.1:n.139+33_139+34delinsCG | |
| ENST00000371085.7:c.139+33_139+34delinsCG | ENSP00000360126.3:n.139+33_139+34delinsCG | |
| ENST00000371095.7:c.139+33_139+34delinsCG | ENSP00000360136.3:n.139+33_139+34delinsCG | |
| ENST00000371098.6:c.*43-3714_*43-3713delinsCG | ENSP00000360139.2:n.*43-3714_*43-3713delinsCG | |
| ENST00000371100.8:c.2069-3714_2069-3713delinsCG | ENSP00000360141.3:n.2069-3714_2069-3713delinsCG | |
| ENST00000371102.8:c.2069-3714_2069-3713delinsCG | ENSP00000360143.4:n.2069-3714_2069-3713delinsCG | |
| ENST00000419558.5:c.384-3714_384-3713delinsCG | ||
| ENST00000423897.5:c.157-3714_157-3713delinsCG | ||
| ENST00000450130.5:c.228-3714_228-3713delinsCG | ||
| ENST00000453292.5:c.544-3714_544-3713delinsCG | ENSP00000392000.1:n.544-3714_544-3713delinsCG | |
| ENST00000461152.5:n.147+1109_147+1110delinsCG | ||
| ENST00000462499.5:n.259-3714_259-3713delinsCG | ||
| ENST00000464624.6:n.2355+33_2355+34delinsCG | ||
| ENST00000464788.5:n.67+2685_67+2686delinsCG | ||
| ENST00000464960.5:n.406+3080_406+3081delinsCG | ||
| ENST00000467227.5:n.123-3714_123-3713delinsCG | ||
| ENST00000467321.5:n.154+2852_154+2853delinsCG | ||
| ENST00000468895.5:n.50+2990_50+2991delinsCG | ||
| ENST00000469431.5:n.256+2492_256+2493delinsCG | ||
| ENST00000470512.5:n.210+2545_210+2546delinsCG | ||
| ENST00000472183.5:n.392-3714_392-3713delinsCG | ||
| ENST00000477931.5:n.254+2545_254+2546delinsCG | ||
| ENST00000478585.5:n.194+2545_194+2546delinsCG | ||
| ENST00000480232.5:n.155+2349_155+2350delinsCG | ||
| ENST00000480975.5:n.183+2545_183+2546delinsCG | ||
| ENST00000481039.5:n.56+2994_56+2995delinsCG | ||
| ENST00000481768.5:n.1324-3714_1324-3713delinsCG | ||
| ENST00000482112.5:n.259-3714_259-3713delinsCG | ||
| ENST00000484504.5:n.127+2545_127+2546delinsCG | ||
| ENST00000485673.5:n.426+2349_426+2350delinsCG | ||
| ENST00000488546.5:n.40+3080_40+3081delinsCG | ||
| ENST00000490374.5:n.255-3714_255-3713delinsCG | ||
| ENST00000491348.5:n.534-3714_534-3713delinsCG | ||
| ENST00000493744.5:n.233-3714_233-3713delinsCG | ||
| ENST00000604005.5:c.-39+2566_-39+2567delinsCG | ENSP00000474219.1:n.-39+2566_-39+2567delinsCG | |
| NM_000516.4:c.139+33_139+34delinsCG | NP_000507.1:n.139+33_139+34delinsCG | |
| NM_000516.5:c.139+33_139+34delinsCG | NP_000507.1:n.139+33_139+34delinsCG | |
| NM_001077488.2:c.139+33_139+34delinsCG | NP_001070956.1:n.139+33_139+34delinsCG | |
| NM_001077488.3:c.139+33_139+34delinsCG | NP_001070956.1:n.139+33_139+34delinsCG | |
| NM_001077489.2:c.139+33_139+34delinsCG | NP_001070957.1:n.139+33_139+34delinsCG | |
| NM_001077489.3:c.139+33_139+34delinsCG | NP_001070957.1:n.139+33_139+34delinsCG | |
| NM_001077490.1:c.*1-3714_*1-3713delinsCG | NP_001070958.1:n.*1-3714_*1-3713delinsCG | |
| NM_001077490.2:c.*1-3714_*1-3713delinsCG | NP_001070958.1:n.*1-3714_*1-3713delinsCG | |
| NM_001309840.1:c.-39+2545_-39+2546delinsCG | NP_001296769.1:n.-39+2545_-39+2546delinsCG | |
| NM_001309842.1:c.139+33_139+34delinsCG | NP_001296771.1:n.139+33_139+34delinsCG | |
| NM_001309861.1:c.-38-3714_-38-3713delinsCG | NP_001296790.1:n.-38-3714_-38-3713delinsCG | |
| NM_001309883.1:c.*159-3714_*159-3713delinsCG | NP_001296812.1:n.*159-3714_*159-3713delinsCG | |
| NM_016592.2:c.*43-3714_*43-3713delinsCG | NP_057676.1:n.*43-3714_*43-3713delinsCG | |
| NM_016592.3:c.*43-3714_*43-3713delinsCG | NP_057676.1:n.*43-3714_*43-3713delinsCG | |
| NM_080425.2:c.2069-3714_2069-3713delinsCG | NP_536350.2:n.2069-3714_2069-3713delinsCG | |
| NM_080425.3:c.2069-3714_2069-3713delinsCG | NP_536350.2:n.2069-3714_2069-3713delinsCG | |
| NM_080426.2:c.139+33_139+34delinsCG | NP_536351.1:n.139+33_139+34delinsCG | |
| NM_080426.3:c.139+33_139+34delinsCG | NP_536351.1:n.139+33_139+34delinsCG | |
| NR_003259.1:c.-4294967067+2545_-4294967067+2546delinsCG | ||
| NR_132273.1:n.406+3080_406+3081delinsCG | ||
| XM_017027812.2:c.2069-3714_2069-3713delinsCG | XP_016883301.1:n.2069-3714_2069-3713delinsCG | |
| XM_017027813.2:c.2069-3714_2069-3713delinsCG | XP_016883302.1:n.2069-3714_2069-3713delinsCG | |
| XM_017027814.2:c.2069-3714_2069-3713delinsCG | XP_016883303.1:n.2069-3714_2069-3713delinsCG | |
| XM_017027815.1:c.44-3714_44-3713delinsCG | XP_016883304.1:n.44-3714_44-3713delinsCG | |
| XM_017027816.1:c.-166+33_-166+34delinsCG | XP_016883305.1:n.-166+33_-166+34delinsCG | |
| XM_017027817.1:c.-39+2545_-39+2546delinsCG | XP_016883306.1:n.-39+2545_-39+2546delinsCG | |
| XM_017027819.1:c.-39+2566_-39+2567delinsCG | XP_016883308.1:n.-39+2566_-39+2567delinsCG | |
| XM_017027821.1:c.*43-3714_*43-3713delinsCG | XP_016883310.1:n.*43-3714_*43-3713delinsCG | |
| XM_017027822.1:c.*43-3714_*43-3713delinsCG | XP_016883311.1:n.*43-3714_*43-3713delinsCG | |
| XM_024451872.1:c.44-3714_44-3713delinsCG | XP_024307640.1:n.44-3714_44-3713delinsCG | |
| XM_024451875.1:c.-39+2566_-39+2567delinsCG | XP_024307643.1:n.-39+2566_-39+2567delinsCG | |
| XR_002958471.1:n.764+33_764+34delinsCG | ||
| NM_000516.6:c.139+33_139+34delinsCG | NP_000507.1:n.139+33_139+34delinsCG | |
| NM_001077488.4:c.139+33_139+34delinsCG | NP_001070956.1:n.139+33_139+34delinsCG | |
| NM_001077489.4:c.139+33_139+34delinsCG | NP_001070957.1:n.139+33_139+34delinsCG | |
| NM_001309840.2:c.-39+2545_-39+2546delinsCG | NP_001296769.1:n.-39+2545_-39+2546delinsCG | |
| NM_001309842.2:c.139+33_139+34delinsCG | NP_001296771.1:n.139+33_139+34delinsCG | |
| NM_001309861.2:c.-38-3714_-38-3713delinsCG | NP_001296790.1:n.-38-3714_-38-3713delinsCG | |
| NM_016592.4:c.*43-3714_*43-3713delinsCG | NP_057676.1:n.*43-3714_*43-3713delinsCG | |
| NM_080426.4:c.139+33_139+34delinsCG | NP_536351.1:n.139+33_139+34delinsCG | |
| NM_000516.7:c.139+33_139+34delinsCG MANE Select | NP_000507.1:n.139+33_139+34delinsCG | |
| NM_001077488.5:c.139+33_139+34delinsCG | NP_001070956.1:n.139+33_139+34delinsCG | |
| NM_001077490.3:c.*1-3714_*1-3713delinsCG | NP_001070958.1:n.*1-3714_*1-3713delinsCG | |
| NM_016592.5:c.*43-3714_*43-3713delinsCG MANE Plus Clinical | NP_057676.1:n.*43-3714_*43-3713delinsCG | |
| NM_080425.4:c.2069-3714_2069-3713delinsCG MANE Plus Clinical | NP_536350.2:n.2069-3714_2069-3713delinsCG |