SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
dbSNP Id:
rs2089443974
gnomAD v3:
20-58892044-CGGGCGGGGGCTCAAAAACG-C
gnomAD v4:
20-58892044-CGGGCGGGGGCTCAAAAACG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58892054_58892072del , CM000682.2:g.58892054_58892072del | GRCh38 |
| NC_000020.10:g.57467109_57467127del , CM000682.1:g.57467109_57467127del | GRCh37 |
| NC_000020.9:g.56900504_56900522del | NCBI36 |
| NG_016194.1:g.57315_57333del | |
| NG_016194.2:g.57315_57333del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3558_2069-3540del | ENSP00000265621.6:n.2069-3558_2069-3540del | |
| ENST00000419558.7:c.*43-3558_*43-3540del | ENSP00000416234.2:n.*43-3558_*43-3540del | |
| ENST00000423897.7:c.2069-3558_2069-3540del | ENSP00000412356.2:n.2069-3558_2069-3540del | |
| ENST00000453292.7:c.781-3558_781-3540del | ENSP00000392000.2:n.781-3558_781-3540del | |
| ENST00000462499.6:c.-38-3558_-38-3540del | ENSP00000499758.2:n.-38-3558_-38-3540del | |
| ENST00000464624.7:c.2160-3558_2160-3540del | ENSP00000499607.2:n.2160-3558_2160-3540del | |
| ENST00000464788.6:c.-39+2841_-39+2859del | ENSP00000499239.2:n.-39+2841_-39+2859del | |
| ENST00000467227.6:c.-38-3558_-38-3540del | ENSP00000499681.2:n.-38-3558_-38-3540del | |
| ENST00000467321.6:c.-39+3008_-39+3026del | ENSP00000499523.2:n.-39+3008_-39+3026del | |
| ENST00000468895.6:c.139+189_139+207del | ENSP00000499551.2:n.139+189_139+207del | |
| ENST00000469431.6:c.-39+2648_-39+2666del | ENSP00000499654.2:n.-39+2648_-39+2666del | |
| ENST00000470512.6:c.-39+2701_-39+2719del | ENSP00000499552.2:n.-39+2701_-39+2719del | |
| ENST00000472183.6:c.-38-3558_-38-3540del | ENSP00000499673.2:n.-38-3558_-38-3540del | |
| ENST00000476935.6:c.-194_-176del | ENSP00000499409.2:n.-194_-176del | |
| ENST00000478585.6:c.-39+2701_-39+2719del | ENSP00000499762.2:n.-39+2701_-39+2719del | |
| ENST00000480232.6:c.-39+2505_-39+2523del | ENSP00000499545.2:n.-39+2505_-39+2523del | |
| ENST00000481039.6:c.-39+3146_-39+3164del | ENSP00000499767.2:n.-39+3146_-39+3164del | |
| ENST00000482112.6:c.-38-3558_-38-3540del | ENSP00000499794.2:n.-38-3558_-38-3540del | |
| ENST00000485673.6:c.-39+2505_-39+2523del | ENSP00000499334.2:n.-39+2505_-39+2523del | |
| ENST00000488546.6:c.-39+3236_-39+3254del | ENSP00000499332.2:n.-39+3236_-39+3254del | |
| ENST00000488652.6:c.-194_-176del | ENSP00000499435.2:n.-194_-176del | |
| ENST00000604005.6:c.-39+2722_-39+2740del | ENSP00000474219.2:n.-39+2722_-39+2740del | |
| ENST00000663479.2:c.-38-3558_-38-3540del | ENSP00000499353.2:n.-38-3558_-38-3540del | |
| ENST00000667293.2:c.-39+3150_-39+3168del | ENSP00000499293.2:n.-39+3150_-39+3168del | |
| ENST00000676826.2:c.2069-3558_2069-3540del | ENSP00000504675.2:n.2069-3558_2069-3540del | |
| ENST00000682803.1:c.-366+189_-366+207del | ENSP00000507069.1:n.-366+189_-366+207del | |
| ENST00000683015.1:c.909+1265_909+1283del | ENSP00000506815.1:n.909+1265_909+1283del | |
| ENST00000306090.12:c.44-3558_44-3540del | ENSP00000304472.12:n.44-3558_44-3540del | |
| ENST00000338783.7:c.139+189_139+207del | ENSP00000345971.7:n.139+189_139+207del | |
| ENST00000349036.8:c.2069-3558_2069-3540del | ENSP00000265621.5:n.2069-3558_2069-3540del | |
| ENST00000354359.12:c.139+189_139+207del | ENSP00000346328.7:n.139+189_139+207del | |
| ENST00000371085.8:c.139+189_139+207del MANE Select | ENSP00000360126.3:n.139+189_139+207del | |
| ENST00000371100.9:c.2069-3558_2069-3540del MANE Plus Clinical | ENSP00000360141.3:n.2069-3558_2069-3540del | |
| ENST00000419558.6:c.*43-3558_*43-3540del | ENSP00000416234.2:n.*43-3558_*43-3540del | |
| ENST00000423897.6:c.2069-3558_2069-3540del | ENSP00000412356.2:n.2069-3558_2069-3540del | |
| ENST00000453292.6:c.*43-3558_*43-3540del | ENSP00000392000.2:n.*43-3558_*43-3540del | |
| ENST00000461152.6:c.909+1265_909+1283del | ENSP00000499274.1:n.909+1265_909+1283del | |
| ENST00000481768.6:c.2227-3558_2227-3540del | ENSP00000499644.2:n.2227-3558_2227-3540del | |
| ENST00000490374.6:n.223-3558_223-3540del | ||
| ENST00000657090.1:c.-38-3558_-38-3540del | ENSP00000499380.1:n.-38-3558_-38-3540del | |
| ENST00000663479.1:c.-38-3558_-38-3540del | ENSP00000499353.1:n.-38-3558_-38-3540del | |
| ENST00000667293.1:c.11-3558_11-3540del | ENSP00000499293.1:n.11-3558_11-3540del | |
| ENST00000676826.1:c.2069-3558_2069-3540del | ENSP00000504675.1:n.2069-3558_2069-3540del | |
| ENST00000265620.11:c.139+189_139+207del | ENSP00000265620.7:n.139+189_139+207del | |
| ENST00000306090.11:c.93+235_93+253del | ENSP00000304472.11:n.93+235_93+253del | |
| ENST00000313949.11:c.*43-3558_*43-3540del | ENSP00000323571.7:n.*43-3558_*43-3540del | |
| ENST00000338783.6:c.106+189_106+207del | ENSP00000345971.6:n.106+189_106+207del | |
| ENST00000349036.7:c.188-3558_188-3540del | ENSP00000265621.4:n.188-3558_188-3540del | |
| ENST00000354359.11:c.139+189_139+207del | ENSP00000346328.7:n.139+189_139+207del | |
| ENST00000371075.7:c.*43-3558_*43-3540del MANE Plus Clinical | ENSP00000360115.3:n.*43-3558_*43-3540del | |
| ENST00000371081.5:c.139+189_139+207del | ENSP00000360122.1:n.139+189_139+207del | |
| ENST00000371085.7:c.139+189_139+207del | ENSP00000360126.3:n.139+189_139+207del | |
| ENST00000371095.7:c.139+189_139+207del | ENSP00000360136.3:n.139+189_139+207del | |
| ENST00000371098.6:c.*43-3558_*43-3540del | ENSP00000360139.2:n.*43-3558_*43-3540del | |
| ENST00000371100.8:c.2069-3558_2069-3540del | ENSP00000360141.3:n.2069-3558_2069-3540del | |
| ENST00000371102.8:c.2069-3558_2069-3540del | ENSP00000360143.4:n.2069-3558_2069-3540del | |
| ENST00000419558.5:c.384-3558_384-3540del | ||
| ENST00000423897.5:c.157-3558_157-3540del | ||
| ENST00000450130.5:c.228-3558_228-3540del | ||
| ENST00000453292.5:c.544-3558_544-3540del | ENSP00000392000.1:n.544-3558_544-3540del | |
| ENST00000461152.5:n.147+1265_147+1283del | ||
| ENST00000462499.5:n.259-3558_259-3540del | ||
| ENST00000464624.6:n.2355+189_2355+207del | ||
| ENST00000464788.5:n.67+2841_67+2859del | ||
| ENST00000464960.5:n.406+3236_406+3254del | ||
| ENST00000467227.5:n.123-3558_123-3540del | ||
| ENST00000467321.5:n.154+3008_154+3026del | ||
| ENST00000468895.5:n.50+3146_50+3164del | ||
| ENST00000469431.5:n.256+2648_256+2666del | ||
| ENST00000470512.5:n.210+2701_210+2719del | ||
| ENST00000472183.5:n.392-3558_392-3540del | ||
| ENST00000476935.5:n.18_36del | ||
| ENST00000477931.5:n.254+2701_254+2719del | ||
| ENST00000478585.5:n.194+2701_194+2719del | ||
| ENST00000480232.5:n.155+2505_155+2523del | ||
| ENST00000480975.5:n.183+2701_183+2719del | ||
| ENST00000481039.5:n.56+3150_56+3168del | ||
| ENST00000481768.5:n.1324-3558_1324-3540del | ||
| ENST00000482112.5:n.259-3558_259-3540del | ||
| ENST00000484504.5:n.127+2701_127+2719del | ||
| ENST00000485673.5:n.426+2505_426+2523del | ||
| ENST00000488546.5:n.40+3236_40+3254del | ||
| ENST00000488652.5:n.74_92del | ||
| ENST00000490374.5:n.255-3558_255-3540del | ||
| ENST00000491348.5:n.534-3558_534-3540del | ||
| ENST00000493744.5:n.233-3558_233-3540del | ||
| ENST00000604005.5:c.-39+2722_-39+2740del | ENSP00000474219.1:n.-39+2722_-39+2740del | |
| NM_000516.4:c.139+189_139+207del | NP_000507.1:n.139+189_139+207del | |
| NM_000516.5:c.139+189_139+207del | NP_000507.1:n.139+189_139+207del | |
| NM_001077488.2:c.139+189_139+207del | NP_001070956.1:n.139+189_139+207del | |
| NM_001077488.3:c.139+189_139+207del | NP_001070956.1:n.139+189_139+207del | |
| NM_001077489.2:c.139+189_139+207del | NP_001070957.1:n.139+189_139+207del | |
| NM_001077489.3:c.139+189_139+207del | NP_001070957.1:n.139+189_139+207del | |
| NM_001077490.1:c.*1-3558_*1-3540del | NP_001070958.1:n.*1-3558_*1-3540del | |
| NM_001077490.2:c.*1-3558_*1-3540del | NP_001070958.1:n.*1-3558_*1-3540del | |
| NM_001309840.1:c.-39+2701_-39+2719del | NP_001296769.1:n.-39+2701_-39+2719del | |
| NM_001309842.1:c.139+189_139+207del | NP_001296771.1:n.139+189_139+207del | |
| NM_001309861.1:c.-38-3558_-38-3540del | NP_001296790.1:n.-38-3558_-38-3540del | |
| NM_001309883.1:c.*159-3558_*159-3540del | NP_001296812.1:n.*159-3558_*159-3540del | |
| NM_016592.2:c.*43-3558_*43-3540del | NP_057676.1:n.*43-3558_*43-3540del | |
| NM_016592.3:c.*43-3558_*43-3540del | NP_057676.1:n.*43-3558_*43-3540del | |
| NM_080425.2:c.2069-3558_2069-3540del | NP_536350.2:n.2069-3558_2069-3540del | |
| NM_080425.3:c.2069-3558_2069-3540del | NP_536350.2:n.2069-3558_2069-3540del | |
| NM_080426.2:c.139+189_139+207del | NP_536351.1:n.139+189_139+207del | |
| NM_080426.3:c.139+189_139+207del | NP_536351.1:n.139+189_139+207del | |
| NR_003259.1:c.-4294967067+2701_-4294967067+2719del | ||
| NR_132273.1:n.406+3236_406+3254del | ||
| XM_017027812.2:c.2069-3558_2069-3540del | XP_016883301.1:n.2069-3558_2069-3540del | |
| XM_017027813.2:c.2069-3558_2069-3540del | XP_016883302.1:n.2069-3558_2069-3540del | |
| XM_017027814.2:c.2069-3558_2069-3540del | XP_016883303.1:n.2069-3558_2069-3540del | |
| XM_017027815.1:c.44-3558_44-3540del | XP_016883304.1:n.44-3558_44-3540del | |
| XM_017027816.1:c.-166+189_-166+207del | XP_016883305.1:n.-166+189_-166+207del | |
| XM_017027817.1:c.-39+2701_-39+2719del | XP_016883306.1:n.-39+2701_-39+2719del | |
| XM_017027818.2:c.-194_-176del | XP_016883307.1:n.-194_-176del | |
| XM_017027819.1:c.-39+2722_-39+2740del | XP_016883308.1:n.-39+2722_-39+2740del | |
| XM_017027821.1:c.*43-3558_*43-3540del | XP_016883310.1:n.*43-3558_*43-3540del | |
| XM_017027822.1:c.*43-3558_*43-3540del | XP_016883311.1:n.*43-3558_*43-3540del | |
| XM_024451872.1:c.44-3558_44-3540del | XP_024307640.1:n.44-3558_44-3540del | |
| XM_024451875.1:c.-39+2722_-39+2740del | XP_024307643.1:n.-39+2722_-39+2740del | |
| XR_002958471.1:n.764+189_764+207del | ||
| NM_000516.6:c.139+189_139+207del | NP_000507.1:n.139+189_139+207del | |
| NM_001077488.4:c.139+189_139+207del | NP_001070956.1:n.139+189_139+207del | |
| NM_001077489.4:c.139+189_139+207del | NP_001070957.1:n.139+189_139+207del | |
| NM_001309840.2:c.-39+2701_-39+2719del | NP_001296769.1:n.-39+2701_-39+2719del | |
| NM_001309842.2:c.139+189_139+207del | NP_001296771.1:n.139+189_139+207del | |
| NM_001309861.2:c.-38-3558_-38-3540del | NP_001296790.1:n.-38-3558_-38-3540del | |
| NM_016592.4:c.*43-3558_*43-3540del | NP_057676.1:n.*43-3558_*43-3540del | |
| NM_080426.4:c.139+189_139+207del | NP_536351.1:n.139+189_139+207del | |
| NM_000516.7:c.139+189_139+207del MANE Select | NP_000507.1:n.139+189_139+207del | |
| NM_001077488.5:c.139+189_139+207del | NP_001070956.1:n.139+189_139+207del | |
| NM_001077490.3:c.*1-3558_*1-3540del | NP_001070958.1:n.*1-3558_*1-3540del | |
| NM_016592.5:c.*43-3558_*43-3540del MANE Plus Clinical | NP_057676.1:n.*43-3558_*43-3540del | |
| NM_080425.4:c.2069-3558_2069-3540del MANE Plus Clinical | NP_536350.2:n.2069-3558_2069-3540del |