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.58892154_58892162delinsCCTCTTTCT , CM000682.2:g.58892154_58892162delinsCCTCTTTCT | GRCh38 |
| NC_000020.10:g.57467209_57467217delinsCCTCTTTCT , CM000682.1:g.57467209_57467217delinsCCTCTTTCT | GRCh37 |
| NC_000020.9:g.56900604_56900612delinsCCTCTTTCT | NCBI36 |
| NG_016194.1:g.57415_57423delinsCCTCTTTCT | |
| NG_016194.2:g.57415_57423delinsCCTCTTTCT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000265621.6:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000419558.7:c.*43-3458_*43-3450delinsCCTCTTTCT | ENSP00000416234.2:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| ENST00000423897.7:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000412356.2:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000453292.7:c.781-3458_781-3450delinsCCTCTTTCT | ENSP00000392000.2:n.781-3458_781-3450delinsCCTCTTTCT | |
| ENST00000462499.6:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499758.2:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000464624.7:c.2160-3458_2160-3450delinsCCTCTTTCT | ENSP00000499607.2:n.2160-3458_2160-3450delinsCCTCTTTCT | |
| ENST00000464788.6:c.-39+2941_-39+2949delinsCCTCTTTCT | ENSP00000499239.2:n.-39+2941_-39+2949delinsCCTCTTTCT | |
| ENST00000467227.6:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499681.2:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000467321.6:c.-39+3108_-39+3116delinsCCTCTTTCT | ENSP00000499523.2:n.-39+3108_-39+3116delinsCCTCTTTCT | |
| ENST00000468895.6:c.139+289_139+297delinsCCTCTTTCT | ENSP00000499551.2:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000469431.6:c.-39+2748_-39+2756delinsCCTCTTTCT | ENSP00000499654.2:n.-39+2748_-39+2756delinsCCTCTTTCT | |
| ENST00000470512.6:c.-39+2801_-39+2809delinsCCTCTTTCT | ENSP00000499552.2:n.-39+2801_-39+2809delinsCCTCTTTCT | |
| ENST00000472183.6:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499673.2:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000476935.6:c.-94_-86delinsCCTCTTTCT | ENSP00000499409.2:n.-94_-86delinsCCTCTTTCT | |
| ENST00000478585.6:c.-39+2801_-39+2809delinsCCTCTTTCT | ENSP00000499762.2:n.-39+2801_-39+2809delinsCCTCTTTCT | |
| ENST00000480232.6:c.-39+2605_-39+2613delinsCCTCTTTCT | ENSP00000499545.2:n.-39+2605_-39+2613delinsCCTCTTTCT | |
| ENST00000481039.6:c.-39+3246_-39+3254delinsCCTCTTTCT | ENSP00000499767.2:n.-39+3246_-39+3254delinsCCTCTTTCT | |
| ENST00000482112.6:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499794.2:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000485673.6:c.-39+2605_-39+2613delinsCCTCTTTCT | ENSP00000499334.2:n.-39+2605_-39+2613delinsCCTCTTTCT | |
| ENST00000488546.6:c.-39+3336_-39+3344delinsCCTCTTTCT | ENSP00000499332.2:n.-39+3336_-39+3344delinsCCTCTTTCT | |
| ENST00000488652.6:c.-94_-86delinsCCTCTTTCT | ENSP00000499435.2:n.-94_-86delinsCCTCTTTCT | |
| ENST00000492907.6:c.-94_-86delinsCCTCTTTCT | ENSP00000499443.2:n.-94_-86delinsCCTCTTTCT | |
| ENST00000604005.6:c.-39+2822_-39+2830delinsCCTCTTTCT | ENSP00000474219.2:n.-39+2822_-39+2830delinsCCTCTTTCT | |
| ENST00000663479.2:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499353.2:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000667293.2:c.-39+3250_-39+3258delinsCCTCTTTCT | ENSP00000499293.2:n.-39+3250_-39+3258delinsCCTCTTTCT | |
| ENST00000676826.2:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000504675.2:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000682803.1:c.-366+289_-366+297delinsCCTCTTTCT | ENSP00000507069.1:n.-366+289_-366+297delinsCCTCTTTCT | |
| ENST00000683015.1:c.909+1365_909+1373delinsCCTCTTTCT | ENSP00000506815.1:n.909+1365_909+1373delinsCCTCTTTCT | |
| ENST00000306090.12:c.44-3458_44-3450delinsCCTCTTTCT | ENSP00000304472.12:n.44-3458_44-3450delinsCCTCTTTCT | |
| ENST00000338783.7:c.139+289_139+297delinsCCTCTTTCT | ENSP00000345971.7:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000349036.8:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000265621.5:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000354359.12:c.139+289_139+297delinsCCTCTTTCT | ENSP00000346328.7:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000371085.8:c.139+289_139+297delinsCCTCTTTCT MANE Select | ENSP00000360126.3:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000371100.9:c.2069-3458_2069-3450delinsCCTCTTTCT MANE Plus Clinical | ENSP00000360141.3:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000419558.6:c.*43-3458_*43-3450delinsCCTCTTTCT | ENSP00000416234.2:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| ENST00000423897.6:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000412356.2:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000453292.6:c.*43-3458_*43-3450delinsCCTCTTTCT | ENSP00000392000.2:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| ENST00000461152.6:c.909+1365_909+1373delinsCCTCTTTCT | ENSP00000499274.1:n.909+1365_909+1373delinsCCTCTTTCT | |
| ENST00000481768.6:c.2227-3458_2227-3450delinsCCTCTTTCT | ENSP00000499644.2:n.2227-3458_2227-3450delinsCCTCTTTCT | |
| ENST00000490374.6:n.223-3458_223-3450delinsCCTCTTTCT | ||
| ENST00000657090.1:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499380.1:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000663479.1:c.-38-3458_-38-3450delinsCCTCTTTCT | ENSP00000499353.1:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| ENST00000667293.1:c.11-3458_11-3450delinsCCTCTTTCT | ENSP00000499293.1:n.11-3458_11-3450delinsCCTCTTTCT | |
| ENST00000676826.1:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000504675.1:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000265620.11:c.139+289_139+297delinsCCTCTTTCT | ENSP00000265620.7:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000306090.11:c.93+335_93+343delinsCCTCTTTCT | ENSP00000304472.11:n.93+335_93+343delinsCCTCTTTCT | |
| ENST00000313949.11:c.*43-3458_*43-3450delinsCCTCTTTCT | ENSP00000323571.7:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| ENST00000338783.6:c.106+289_106+297delinsCCTCTTTCT | ENSP00000345971.6:n.106+289_106+297delinsCCTCTTTCT | |
| ENST00000349036.7:c.188-3458_188-3450delinsCCTCTTTCT | ENSP00000265621.4:n.188-3458_188-3450delinsCCTCTTTCT | |
| ENST00000354359.11:c.139+289_139+297delinsCCTCTTTCT | ENSP00000346328.7:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000371075.7:c.*43-3458_*43-3450delinsCCTCTTTCT MANE Plus Clinical | ENSP00000360115.3:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| ENST00000371081.5:c.139+289_139+297delinsCCTCTTTCT | ENSP00000360122.1:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000371085.7:c.139+289_139+297delinsCCTCTTTCT | ENSP00000360126.3:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000371095.7:c.139+289_139+297delinsCCTCTTTCT | ENSP00000360136.3:n.139+289_139+297delinsCCTCTTTCT | |
| ENST00000371098.6:c.*43-3458_*43-3450delinsCCTCTTTCT | ENSP00000360139.2:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| ENST00000371100.8:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000360141.3:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000371102.8:c.2069-3458_2069-3450delinsCCTCTTTCT | ENSP00000360143.4:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| ENST00000419558.5:c.384-3458_384-3450delinsCCTCTTTCT | ||
| ENST00000423897.5:c.157-3458_157-3450delinsCCTCTTTCT | ||
| ENST00000450130.5:c.228-3458_228-3450delinsCCTCTTTCT | ||
| ENST00000453292.5:c.544-3458_544-3450delinsCCTCTTTCT | ENSP00000392000.1:n.544-3458_544-3450delinsCCTCTTTCT | |
| ENST00000461152.5:n.147+1365_147+1373delinsCCTCTTTCT | ||
| ENST00000462499.5:n.259-3458_259-3450delinsCCTCTTTCT | ||
| ENST00000464624.6:n.2355+289_2355+297delinsCCTCTTTCT | ||
| ENST00000464788.5:n.67+2941_67+2949delinsCCTCTTTCT | ||
| ENST00000464960.5:n.406+3336_406+3344delinsCCTCTTTCT | ||
| ENST00000467227.5:n.123-3458_123-3450delinsCCTCTTTCT | ||
| ENST00000467321.5:n.154+3108_154+3116delinsCCTCTTTCT | ||
| ENST00000468895.5:n.50+3246_50+3254delinsCCTCTTTCT | ||
| ENST00000469431.5:n.256+2748_256+2756delinsCCTCTTTCT | ||
| ENST00000470512.5:n.210+2801_210+2809delinsCCTCTTTCT | ||
| ENST00000472183.5:n.392-3458_392-3450delinsCCTCTTTCT | ||
| ENST00000476935.5:n.118_126delinsCCTCTTTCT | ||
| ENST00000477931.5:n.254+2801_254+2809delinsCCTCTTTCT | ||
| ENST00000478585.5:n.194+2801_194+2809delinsCCTCTTTCT | ||
| ENST00000480232.5:n.155+2605_155+2613delinsCCTCTTTCT | ||
| ENST00000480975.5:n.183+2801_183+2809delinsCCTCTTTCT | ||
| ENST00000481039.5:n.56+3250_56+3258delinsCCTCTTTCT | ||
| ENST00000481768.5:n.1324-3458_1324-3450delinsCCTCTTTCT | ||
| ENST00000482112.5:n.259-3458_259-3450delinsCCTCTTTCT | ||
| ENST00000484504.5:n.127+2801_127+2809delinsCCTCTTTCT | ||
| ENST00000485673.5:n.426+2605_426+2613delinsCCTCTTTCT | ||
| ENST00000488546.5:n.40+3336_40+3344delinsCCTCTTTCT | ||
| ENST00000488652.5:n.174_182delinsCCTCTTTCT | ||
| ENST00000490374.5:n.255-3458_255-3450delinsCCTCTTTCT | ||
| ENST00000491348.5:n.534-3458_534-3450delinsCCTCTTTCT | ||
| ENST00000492907.5:n.77_85delinsCCTCTTTCT | ||
| ENST00000493744.5:n.233-3458_233-3450delinsCCTCTTTCT | ||
| ENST00000604005.5:c.-39+2822_-39+2830delinsCCTCTTTCT | ENSP00000474219.1:n.-39+2822_-39+2830delinsCCTCTTTCT | |
| NM_000516.4:c.139+289_139+297delinsCCTCTTTCT | NP_000507.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_000516.5:c.139+289_139+297delinsCCTCTTTCT | NP_000507.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077488.2:c.139+289_139+297delinsCCTCTTTCT | NP_001070956.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077488.3:c.139+289_139+297delinsCCTCTTTCT | NP_001070956.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077489.2:c.139+289_139+297delinsCCTCTTTCT | NP_001070957.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077489.3:c.139+289_139+297delinsCCTCTTTCT | NP_001070957.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077490.1:c.*1-3458_*1-3450delinsCCTCTTTCT | NP_001070958.1:n.*1-3458_*1-3450delinsCCTCTTTCT | |
| NM_001077490.2:c.*1-3458_*1-3450delinsCCTCTTTCT | NP_001070958.1:n.*1-3458_*1-3450delinsCCTCTTTCT | |
| NM_001309840.1:c.-39+2801_-39+2809delinsCCTCTTTCT | NP_001296769.1:n.-39+2801_-39+2809delinsCCTCTTTCT | |
| NM_001309842.1:c.139+289_139+297delinsCCTCTTTCT | NP_001296771.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001309861.1:c.-38-3458_-38-3450delinsCCTCTTTCT | NP_001296790.1:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| NM_001309883.1:c.*159-3458_*159-3450delinsCCTCTTTCT | NP_001296812.1:n.*159-3458_*159-3450delinsCCTCTTTCT | |
| NM_016592.2:c.*43-3458_*43-3450delinsCCTCTTTCT | NP_057676.1:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| NM_016592.3:c.*43-3458_*43-3450delinsCCTCTTTCT | NP_057676.1:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| NM_080425.2:c.2069-3458_2069-3450delinsCCTCTTTCT | NP_536350.2:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| NM_080425.3:c.2069-3458_2069-3450delinsCCTCTTTCT | NP_536350.2:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| NM_080426.2:c.139+289_139+297delinsCCTCTTTCT | NP_536351.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_080426.3:c.139+289_139+297delinsCCTCTTTCT | NP_536351.1:n.139+289_139+297delinsCCTCTTTCT | |
| NR_003259.1:c.-4294967067+2801_-4294967067+2809delinsCCTCTTTCT | ||
| NR_132273.1:n.406+3336_406+3344delinsCCTCTTTCT | ||
| XM_017027812.2:c.2069-3458_2069-3450delinsCCTCTTTCT | XP_016883301.1:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| XM_017027813.2:c.2069-3458_2069-3450delinsCCTCTTTCT | XP_016883302.1:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| XM_017027814.2:c.2069-3458_2069-3450delinsCCTCTTTCT | XP_016883303.1:n.2069-3458_2069-3450delinsCCTCTTTCT | |
| XM_017027815.1:c.44-3458_44-3450delinsCCTCTTTCT | XP_016883304.1:n.44-3458_44-3450delinsCCTCTTTCT | |
| XM_017027816.1:c.-166+289_-166+297delinsCCTCTTTCT | XP_016883305.1:n.-166+289_-166+297delinsCCTCTTTCT | |
| XM_017027817.1:c.-39+2801_-39+2809delinsCCTCTTTCT | XP_016883306.1:n.-39+2801_-39+2809delinsCCTCTTTCT | |
| XM_017027818.2:c.-94_-86delinsCCTCTTTCT | XP_016883307.1:n.-94_-86delinsCCTCTTTCT | |
| XM_017027819.1:c.-39+2822_-39+2830delinsCCTCTTTCT | XP_016883308.1:n.-39+2822_-39+2830delinsCCTCTTTCT | |
| XM_017027821.1:c.*43-3458_*43-3450delinsCCTCTTTCT | XP_016883310.1:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| XM_017027822.1:c.*43-3458_*43-3450delinsCCTCTTTCT | XP_016883311.1:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| XM_024451872.1:c.44-3458_44-3450delinsCCTCTTTCT | XP_024307640.1:n.44-3458_44-3450delinsCCTCTTTCT | |
| XM_024451873.1:c.-94_-86delinsCCTCTTTCT | XP_024307641.1:n.-94_-86delinsCCTCTTTCT | |
| XM_024451875.1:c.-39+2822_-39+2830delinsCCTCTTTCT | XP_024307643.1:n.-39+2822_-39+2830delinsCCTCTTTCT | |
| XR_002958471.1:n.764+289_764+297delinsCCTCTTTCT | ||
| NM_000516.6:c.139+289_139+297delinsCCTCTTTCT | NP_000507.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077488.4:c.139+289_139+297delinsCCTCTTTCT | NP_001070956.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077489.4:c.139+289_139+297delinsCCTCTTTCT | NP_001070957.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001309840.2:c.-39+2801_-39+2809delinsCCTCTTTCT | NP_001296769.1:n.-39+2801_-39+2809delinsCCTCTTTCT | |
| NM_001309842.2:c.139+289_139+297delinsCCTCTTTCT | NP_001296771.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001309861.2:c.-38-3458_-38-3450delinsCCTCTTTCT | NP_001296790.1:n.-38-3458_-38-3450delinsCCTCTTTCT | |
| NM_016592.4:c.*43-3458_*43-3450delinsCCTCTTTCT | NP_057676.1:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| NM_080426.4:c.139+289_139+297delinsCCTCTTTCT | NP_536351.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_000516.7:c.139+289_139+297delinsCCTCTTTCT MANE Select | NP_000507.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077488.5:c.139+289_139+297delinsCCTCTTTCT | NP_001070956.1:n.139+289_139+297delinsCCTCTTTCT | |
| NM_001077490.3:c.*1-3458_*1-3450delinsCCTCTTTCT | NP_001070958.1:n.*1-3458_*1-3450delinsCCTCTTTCT | |
| NM_016592.5:c.*43-3458_*43-3450delinsCCTCTTTCT MANE Plus Clinical | NP_057676.1:n.*43-3458_*43-3450delinsCCTCTTTCT | |
| NM_080425.4:c.2069-3458_2069-3450delinsCCTCTTTCT MANE Plus Clinical | NP_536350.2:n.2069-3458_2069-3450delinsCCTCTTTCT |