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.
Linked Data
gnomAD v4:
20-58892155-C-CTCTT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58892159_58892162dup , CM000682.2:g.58892159_58892162dup | GRCh38 |
| NC_000020.10:g.57467214_57467217dup , CM000682.1:g.57467214_57467217dup | GRCh37 |
| NC_000020.9:g.56900609_56900612dup | NCBI36 |
| NG_016194.1:g.57420_57423dup | |
| NG_016194.2:g.57420_57423dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3453_2069-3450dup | ENSP00000265621.6:n.2069-3453_2069-3450dup | |
| ENST00000419558.7:c.*43-3453_*43-3450dup | ENSP00000416234.2:n.*43-3453_*43-3450dup | |
| ENST00000423897.7:c.2069-3453_2069-3450dup | ENSP00000412356.2:n.2069-3453_2069-3450dup | |
| ENST00000453292.7:c.781-3453_781-3450dup | ENSP00000392000.2:n.781-3453_781-3450dup | |
| ENST00000462499.6:c.-38-3453_-38-3450dup | ENSP00000499758.2:n.-38-3453_-38-3450dup | |
| ENST00000464624.7:c.2160-3453_2160-3450dup | ENSP00000499607.2:n.2160-3453_2160-3450dup | |
| ENST00000464788.6:c.-39+2946_-39+2949dup | ENSP00000499239.2:n.-39+2946_-39+2949dup | |
| ENST00000467227.6:c.-38-3453_-38-3450dup | ENSP00000499681.2:n.-38-3453_-38-3450dup | |
| ENST00000467321.6:c.-39+3113_-39+3116dup | ENSP00000499523.2:n.-39+3113_-39+3116dup | |
| ENST00000468895.6:c.139+294_139+297dup | ENSP00000499551.2:n.139+294_139+297dup | |
| ENST00000469431.6:c.-39+2753_-39+2756dup | ENSP00000499654.2:n.-39+2753_-39+2756dup | |
| ENST00000470512.6:c.-39+2806_-39+2809dup | ENSP00000499552.2:n.-39+2806_-39+2809dup | |
| ENST00000472183.6:c.-38-3453_-38-3450dup | ENSP00000499673.2:n.-38-3453_-38-3450dup | |
| ENST00000476935.6:c.-89_-86dup | ENSP00000499409.2:n.-89_-86dup | |
| ENST00000478585.6:c.-39+2806_-39+2809dup | ENSP00000499762.2:n.-39+2806_-39+2809dup | |
| ENST00000480232.6:c.-39+2610_-39+2613dup | ENSP00000499545.2:n.-39+2610_-39+2613dup | |
| ENST00000481039.6:c.-39+3251_-39+3254dup | ENSP00000499767.2:n.-39+3251_-39+3254dup | |
| ENST00000482112.6:c.-38-3453_-38-3450dup | ENSP00000499794.2:n.-38-3453_-38-3450dup | |
| ENST00000485673.6:c.-39+2610_-39+2613dup | ENSP00000499334.2:n.-39+2610_-39+2613dup | |
| ENST00000488546.6:c.-39+3341_-39+3344dup | ENSP00000499332.2:n.-39+3341_-39+3344dup | |
| ENST00000488652.6:c.-89_-86dup | ENSP00000499435.2:n.-89_-86dup | |
| ENST00000492907.6:c.-89_-86dup | ENSP00000499443.2:n.-89_-86dup | |
| ENST00000604005.6:c.-39+2827_-39+2830dup | ENSP00000474219.2:n.-39+2827_-39+2830dup | |
| ENST00000663479.2:c.-38-3453_-38-3450dup | ENSP00000499353.2:n.-38-3453_-38-3450dup | |
| ENST00000667293.2:c.-39+3255_-39+3258dup | ENSP00000499293.2:n.-39+3255_-39+3258dup | |
| ENST00000676826.2:c.2069-3453_2069-3450dup | ENSP00000504675.2:n.2069-3453_2069-3450dup | |
| ENST00000682803.1:c.-366+294_-366+297dup | ENSP00000507069.1:n.-366+294_-366+297dup | |
| ENST00000683015.1:c.909+1370_909+1373dup | ENSP00000506815.1:n.909+1370_909+1373dup | |
| ENST00000306090.12:c.44-3453_44-3450dup | ENSP00000304472.12:n.44-3453_44-3450dup | |
| ENST00000338783.7:c.139+294_139+297dup | ENSP00000345971.7:n.139+294_139+297dup | |
| ENST00000349036.8:c.2069-3453_2069-3450dup | ENSP00000265621.5:n.2069-3453_2069-3450dup | |
| ENST00000354359.12:c.139+294_139+297dup | ENSP00000346328.7:n.139+294_139+297dup | |
| ENST00000371085.8:c.139+294_139+297dup MANE Select | ENSP00000360126.3:n.139+294_139+297dup | |
| ENST00000371100.9:c.2069-3453_2069-3450dup MANE Plus Clinical | ENSP00000360141.3:n.2069-3453_2069-3450dup | |
| ENST00000419558.6:c.*43-3453_*43-3450dup | ENSP00000416234.2:n.*43-3453_*43-3450dup | |
| ENST00000423897.6:c.2069-3453_2069-3450dup | ENSP00000412356.2:n.2069-3453_2069-3450dup | |
| ENST00000453292.6:c.*43-3453_*43-3450dup | ENSP00000392000.2:n.*43-3453_*43-3450dup | |
| ENST00000461152.6:c.909+1370_909+1373dup | ENSP00000499274.1:n.909+1370_909+1373dup | |
| ENST00000481768.6:c.2227-3453_2227-3450dup | ENSP00000499644.2:n.2227-3453_2227-3450dup | |
| ENST00000490374.6:n.223-3453_223-3450dup | ||
| ENST00000657090.1:c.-38-3453_-38-3450dup | ENSP00000499380.1:n.-38-3453_-38-3450dup | |
| ENST00000663479.1:c.-38-3453_-38-3450dup | ENSP00000499353.1:n.-38-3453_-38-3450dup | |
| ENST00000667293.1:c.11-3453_11-3450dup | ENSP00000499293.1:n.11-3453_11-3450dup | |
| ENST00000676826.1:c.2069-3453_2069-3450dup | ENSP00000504675.1:n.2069-3453_2069-3450dup | |
| ENST00000265620.11:c.139+294_139+297dup | ENSP00000265620.7:n.139+294_139+297dup | |
| ENST00000306090.11:c.93+340_93+343dup | ENSP00000304472.11:n.93+340_93+343dup | |
| ENST00000313949.11:c.*43-3453_*43-3450dup | ENSP00000323571.7:n.*43-3453_*43-3450dup | |
| ENST00000338783.6:c.106+294_106+297dup | ENSP00000345971.6:n.106+294_106+297dup | |
| ENST00000349036.7:c.188-3453_188-3450dup | ENSP00000265621.4:n.188-3453_188-3450dup | |
| ENST00000354359.11:c.139+294_139+297dup | ENSP00000346328.7:n.139+294_139+297dup | |
| ENST00000371075.7:c.*43-3453_*43-3450dup MANE Plus Clinical | ENSP00000360115.3:n.*43-3453_*43-3450dup | |
| ENST00000371081.5:c.139+294_139+297dup | ENSP00000360122.1:n.139+294_139+297dup | |
| ENST00000371085.7:c.139+294_139+297dup | ENSP00000360126.3:n.139+294_139+297dup | |
| ENST00000371095.7:c.139+294_139+297dup | ENSP00000360136.3:n.139+294_139+297dup | |
| ENST00000371098.6:c.*43-3453_*43-3450dup | ENSP00000360139.2:n.*43-3453_*43-3450dup | |
| ENST00000371100.8:c.2069-3453_2069-3450dup | ENSP00000360141.3:n.2069-3453_2069-3450dup | |
| ENST00000371102.8:c.2069-3453_2069-3450dup | ENSP00000360143.4:n.2069-3453_2069-3450dup | |
| ENST00000419558.5:c.384-3453_384-3450dup | ||
| ENST00000423897.5:c.157-3453_157-3450dup | ||
| ENST00000450130.5:c.228-3453_228-3450dup | ||
| ENST00000453292.5:c.544-3453_544-3450dup | ENSP00000392000.1:n.544-3453_544-3450dup | |
| ENST00000461152.5:n.147+1370_147+1373dup | ||
| ENST00000462499.5:n.259-3453_259-3450dup | ||
| ENST00000464624.6:n.2355+294_2355+297dup | ||
| ENST00000464788.5:n.67+2946_67+2949dup | ||
| ENST00000464960.5:n.406+3341_406+3344dup | ||
| ENST00000467227.5:n.123-3453_123-3450dup | ||
| ENST00000467321.5:n.154+3113_154+3116dup | ||
| ENST00000468895.5:n.50+3251_50+3254dup | ||
| ENST00000469431.5:n.256+2753_256+2756dup | ||
| ENST00000470512.5:n.210+2806_210+2809dup | ||
| ENST00000472183.5:n.392-3453_392-3450dup | ||
| ENST00000476935.5:n.123_126dup | ||
| ENST00000477931.5:n.254+2806_254+2809dup | ||
| ENST00000478585.5:n.194+2806_194+2809dup | ||
| ENST00000480232.5:n.155+2610_155+2613dup | ||
| ENST00000480975.5:n.183+2806_183+2809dup | ||
| ENST00000481039.5:n.56+3255_56+3258dup | ||
| ENST00000481768.5:n.1324-3453_1324-3450dup | ||
| ENST00000482112.5:n.259-3453_259-3450dup | ||
| ENST00000484504.5:n.127+2806_127+2809dup | ||
| ENST00000485673.5:n.426+2610_426+2613dup | ||
| ENST00000488546.5:n.40+3341_40+3344dup | ||
| ENST00000488652.5:n.179_182dup | ||
| ENST00000490374.5:n.255-3453_255-3450dup | ||
| ENST00000491348.5:n.534-3453_534-3450dup | ||
| ENST00000492907.5:n.82_85dup | ||
| ENST00000493744.5:n.233-3453_233-3450dup | ||
| ENST00000604005.5:c.-39+2827_-39+2830dup | ENSP00000474219.1:n.-39+2827_-39+2830dup | |
| NM_000516.4:c.139+294_139+297dup | NP_000507.1:n.139+294_139+297dup | |
| NM_000516.5:c.139+294_139+297dup | NP_000507.1:n.139+294_139+297dup | |
| NM_001077488.2:c.139+294_139+297dup | NP_001070956.1:n.139+294_139+297dup | |
| NM_001077488.3:c.139+294_139+297dup | NP_001070956.1:n.139+294_139+297dup | |
| NM_001077489.2:c.139+294_139+297dup | NP_001070957.1:n.139+294_139+297dup | |
| NM_001077489.3:c.139+294_139+297dup | NP_001070957.1:n.139+294_139+297dup | |
| NM_001077490.1:c.*1-3453_*1-3450dup | NP_001070958.1:n.*1-3453_*1-3450dup | |
| NM_001077490.2:c.*1-3453_*1-3450dup | NP_001070958.1:n.*1-3453_*1-3450dup | |
| NM_001309840.1:c.-39+2806_-39+2809dup | NP_001296769.1:n.-39+2806_-39+2809dup | |
| NM_001309842.1:c.139+294_139+297dup | NP_001296771.1:n.139+294_139+297dup | |
| NM_001309861.1:c.-38-3453_-38-3450dup | NP_001296790.1:n.-38-3453_-38-3450dup | |
| NM_001309883.1:c.*159-3453_*159-3450dup | NP_001296812.1:n.*159-3453_*159-3450dup | |
| NM_016592.2:c.*43-3453_*43-3450dup | NP_057676.1:n.*43-3453_*43-3450dup | |
| NM_016592.3:c.*43-3453_*43-3450dup | NP_057676.1:n.*43-3453_*43-3450dup | |
| NM_080425.2:c.2069-3453_2069-3450dup | NP_536350.2:n.2069-3453_2069-3450dup | |
| NM_080425.3:c.2069-3453_2069-3450dup | NP_536350.2:n.2069-3453_2069-3450dup | |
| NM_080426.2:c.139+294_139+297dup | NP_536351.1:n.139+294_139+297dup | |
| NM_080426.3:c.139+294_139+297dup | NP_536351.1:n.139+294_139+297dup | |
| NR_003259.1:c.-4294967067+2806_-4294967067+2809dup | ||
| NR_132273.1:n.406+3341_406+3344dup | ||
| XM_017027812.2:c.2069-3453_2069-3450dup | XP_016883301.1:n.2069-3453_2069-3450dup | |
| XM_017027813.2:c.2069-3453_2069-3450dup | XP_016883302.1:n.2069-3453_2069-3450dup | |
| XM_017027814.2:c.2069-3453_2069-3450dup | XP_016883303.1:n.2069-3453_2069-3450dup | |
| XM_017027815.1:c.44-3453_44-3450dup | XP_016883304.1:n.44-3453_44-3450dup | |
| XM_017027816.1:c.-166+294_-166+297dup | XP_016883305.1:n.-166+294_-166+297dup | |
| XM_017027817.1:c.-39+2806_-39+2809dup | XP_016883306.1:n.-39+2806_-39+2809dup | |
| XM_017027818.2:c.-89_-86dup | XP_016883307.1:n.-89_-86dup | |
| XM_017027819.1:c.-39+2827_-39+2830dup | XP_016883308.1:n.-39+2827_-39+2830dup | |
| XM_017027821.1:c.*43-3453_*43-3450dup | XP_016883310.1:n.*43-3453_*43-3450dup | |
| XM_017027822.1:c.*43-3453_*43-3450dup | XP_016883311.1:n.*43-3453_*43-3450dup | |
| XM_024451872.1:c.44-3453_44-3450dup | XP_024307640.1:n.44-3453_44-3450dup | |
| XM_024451873.1:c.-89_-86dup | XP_024307641.1:n.-89_-86dup | |
| XM_024451875.1:c.-39+2827_-39+2830dup | XP_024307643.1:n.-39+2827_-39+2830dup | |
| XR_002958471.1:n.764+294_764+297dup | ||
| NM_000516.6:c.139+294_139+297dup | NP_000507.1:n.139+294_139+297dup | |
| NM_001077488.4:c.139+294_139+297dup | NP_001070956.1:n.139+294_139+297dup | |
| NM_001077489.4:c.139+294_139+297dup | NP_001070957.1:n.139+294_139+297dup | |
| NM_001309840.2:c.-39+2806_-39+2809dup | NP_001296769.1:n.-39+2806_-39+2809dup | |
| NM_001309842.2:c.139+294_139+297dup | NP_001296771.1:n.139+294_139+297dup | |
| NM_001309861.2:c.-38-3453_-38-3450dup | NP_001296790.1:n.-38-3453_-38-3450dup | |
| NM_016592.4:c.*43-3453_*43-3450dup | NP_057676.1:n.*43-3453_*43-3450dup | |
| NM_080426.4:c.139+294_139+297dup | NP_536351.1:n.139+294_139+297dup | |
| NM_000516.7:c.139+294_139+297dup MANE Select | NP_000507.1:n.139+294_139+297dup | |
| NM_001077488.5:c.139+294_139+297dup | NP_001070956.1:n.139+294_139+297dup | |
| NM_001077490.3:c.*1-3453_*1-3450dup | NP_001070958.1:n.*1-3453_*1-3450dup | |
| NM_016592.5:c.*43-3453_*43-3450dup MANE Plus Clinical | NP_057676.1:n.*43-3453_*43-3450dup | |
| NM_080425.4:c.2069-3453_2069-3450dup MANE Plus Clinical | NP_536350.2:n.2069-3453_2069-3450dup |