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.58891914_58891948delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC , CM000682.2:g.58891914_58891948delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | GRCh38 |
| NC_000020.10:g.57466969_57467003delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC , CM000682.1:g.57466969_57467003delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | GRCh37 |
| NC_000020.9:g.56900364_56900398delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NCBI36 |
| NG_016194.1:g.57175_57209delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | |
| NG_016194.2:g.57175_57209delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000265621.6:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000419558.7:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000416234.2:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000423897.7:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000412356.2:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000453292.7:c.781-3698_781-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000392000.2:n.781-3698_781-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000462499.6:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499758.2:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000464624.7:c.2160-3698_2160-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499607.2:n.2160-3698_2160-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000464788.6:c.-39+2701_-39+2735delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499239.2:n.-39+2701_-39+2735delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000467227.6:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499681.2:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000467321.6:c.-39+2868_-39+2902delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499523.2:n.-39+2868_-39+2902delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000468895.6:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499551.2:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000469431.6:c.-39+2508_-39+2542delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499654.2:n.-39+2508_-39+2542delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000470512.6:c.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499552.2:n.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000472183.6:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499673.2:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000478585.6:c.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499762.2:n.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000480232.6:c.-39+2365_-39+2399delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499545.2:n.-39+2365_-39+2399delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000481039.6:c.-39+3006_-39+3040delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499767.2:n.-39+3006_-39+3040delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000482112.6:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499794.2:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000485673.6:c.-39+2365_-39+2399delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499334.2:n.-39+2365_-39+2399delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000488546.6:c.-39+3096_-39+3130delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499332.2:n.-39+3096_-39+3130delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000604005.6:c.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000474219.2:n.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000663479.2:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499353.2:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000667293.2:c.-39+3010_-39+3044delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499293.2:n.-39+3010_-39+3044delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000676826.2:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000504675.2:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000682803.1:c.-366+49_-366+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000507069.1:n.-366+49_-366+83delinsGCGCCCCGCAGGCCGCGCGC... | |
| ENST00000683015.1:c.909+1125_909+1159delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000506815.1:n.909+1125_909+1159delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000306090.12:c.44-3698_44-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000304472.12:n.44-3698_44-3664delinsGCGCCCCGCAGGCCGCGCG... | |
| ENST00000338783.7:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000345971.7:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000349036.8:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000265621.5:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000354359.12:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000346328.7:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000371085.8:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC MANE Select | ENSP00000360126.3:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000371100.9:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC MANE Plus Clinical | ENSP00000360141.3:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000419558.6:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000416234.2:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000423897.6:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000412356.2:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000453292.6:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000392000.2:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000461152.6:c.909+1125_909+1159delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499274.1:n.909+1125_909+1159delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000481768.6:c.2227-3698_2227-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499644.2:n.2227-3698_2227-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000490374.6:n.223-3698_223-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000657090.1:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499380.1:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000663479.1:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499353.1:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000667293.1:c.11-3698_11-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000499293.1:n.11-3698_11-3664delinsGCGCCCCGCAGGCCGCGCGC... | |
| ENST00000676826.1:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000504675.1:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000265620.11:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000265620.7:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000306090.11:c.93+95_93+129delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000304472.11:n.93+95_93+129delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000313949.11:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000323571.7:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000338783.6:c.106+49_106+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000345971.6:n.106+49_106+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000349036.7:c.188-3698_188-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000265621.4:n.188-3698_188-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000354359.11:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000346328.7:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000371075.7:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC MANE Plus Clinical | ENSP00000360115.3:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000371081.5:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000360122.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000371085.7:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000360126.3:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000371095.7:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000360136.3:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| ENST00000371098.6:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000360139.2:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000371100.8:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000360141.3:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000371102.8:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000360143.4:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGC... | |
| ENST00000419558.5:c.384-3698_384-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000423897.5:c.157-3698_157-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000450130.5:c.228-3698_228-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000453292.5:c.544-3698_544-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000392000.1:n.544-3698_544-3664delinsGCGCCCCGCAGGCCGCGC... | |
| ENST00000461152.5:n.147+1125_147+1159delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000462499.5:n.259-3698_259-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000464624.6:n.2355+49_2355+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000464788.5:n.67+2701_67+2735delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000464960.5:n.406+3096_406+3130delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000467227.5:n.123-3698_123-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000467321.5:n.154+2868_154+2902delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000468895.5:n.50+3006_50+3040delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000469431.5:n.256+2508_256+2542delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000470512.5:n.210+2561_210+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000472183.5:n.392-3698_392-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000477931.5:n.254+2561_254+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000478585.5:n.194+2561_194+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000480232.5:n.155+2365_155+2399delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000480975.5:n.183+2561_183+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000481039.5:n.56+3010_56+3044delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000481768.5:n.1324-3698_1324-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000482112.5:n.259-3698_259-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000484504.5:n.127+2561_127+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000485673.5:n.426+2365_426+2399delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000488546.5:n.40+3096_40+3130delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000490374.5:n.255-3698_255-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000491348.5:n.534-3698_534-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000493744.5:n.233-3698_233-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| ENST00000604005.5:c.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ENSP00000474219.1:n.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGC... | |
| NM_000516.4:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_000507.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NM_000516.5:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_000507.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NM_001077488.2:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070956.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001077488.3:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070956.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001077489.2:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070957.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001077489.3:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070957.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001077490.1:c.*1-3698_*1-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070958.1:n.*1-3698_*1-3664delinsGCGCCCCGCAGGCCGCGCGCGCC... | |
| NM_001077490.2:c.*1-3698_*1-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070958.1:n.*1-3698_*1-3664delinsGCGCCCCGCAGGCCGCGCGCGCC... | |
| NM_001309840.1:c.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296769.1:n.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCG... | |
| NM_001309842.1:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296771.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001309861.1:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296790.1:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCG... | |
| NM_001309883.1:c.*159-3698_*159-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296812.1:n.*159-3698_*159-3664delinsGCGCCCCGCAGGCCGCGCG... | |
| NM_016592.2:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_057676.1:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCG... | |
| NM_016592.3:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_057676.1:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCG... | |
| NM_080425.2:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_536350.2:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| NM_080425.3:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_536350.2:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGC... | |
| NM_080426.2:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_536351.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NM_080426.3:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_536351.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NR_003259.1:c.-4294967067+2561_-4294967067+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| NR_132273.1:n.406+3096_406+3130delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| XM_017027812.2:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883301.1:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCG... | |
| XM_017027813.2:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883302.1:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCG... | |
| XM_017027814.2:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883303.1:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCG... | |
| XM_017027815.1:c.44-3698_44-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883304.1:n.44-3698_44-3664delinsGCGCCCCGCAGGCCGCGCGCGCC... | |
| XM_017027816.1:c.-166+49_-166+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883305.1:n.-166+49_-166+83delinsGCGCCCCGCAGGCCGCGCGCGCC... | |
| XM_017027817.1:c.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883306.1:n.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCG... | |
| XM_017027819.1:c.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883308.1:n.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGCGCG... | |
| XM_017027821.1:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883310.1:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCG... | |
| XM_017027822.1:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_016883311.1:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCG... | |
| XM_024451872.1:c.44-3698_44-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_024307640.1:n.44-3698_44-3664delinsGCGCCCCGCAGGCCGCGCGCGCC... | |
| XM_024451875.1:c.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | XP_024307643.1:n.-39+2582_-39+2616delinsGCGCCCCGCAGGCCGCGCGCG... | |
| XR_002958471.1:n.764+49_764+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | ||
| NM_000516.6:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_000507.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NM_001077488.4:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070956.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001077489.4:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070957.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001309840.2:c.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296769.1:n.-39+2561_-39+2595delinsGCGCCCCGCAGGCCGCGCGCG... | |
| NM_001309842.2:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296771.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001309861.2:c.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001296790.1:n.-38-3698_-38-3664delinsGCGCCCCGCAGGCCGCGCGCG... | |
| NM_016592.4:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_057676.1:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCG... | |
| NM_080426.4:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_536351.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NM_000516.7:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC MANE Select | NP_000507.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCC... | |
| NM_001077488.5:c.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070956.1:n.139+49_139+83delinsGCGCCCCGCAGGCCGCGCGCGCCGA... | |
| NM_001077490.3:c.*1-3698_*1-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC | NP_001070958.1:n.*1-3698_*1-3664delinsGCGCCCCGCAGGCCGCGCGCGCC... | |
| NM_016592.5:c.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC MANE Plus Clinical | NP_057676.1:n.*43-3698_*43-3664delinsGCGCCCCGCAGGCCGCGCGCGCCG... | |
| NM_080425.4:c.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGCCGAGCCCGCCCCC MANE Plus Clinical | NP_536350.2:n.2069-3698_2069-3664delinsGCGCCCCGCAGGCCGCGCGCGC... |