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.58892169_58892177delinsCTCTCTTTT , CM000682.2:g.58892169_58892177delinsCTCTCTTTT | GRCh38 |
| NC_000020.10:g.57467224_57467232delinsCTCTCTTTT , CM000682.1:g.57467224_57467232delinsCTCTCTTTT | GRCh37 |
| NC_000020.9:g.56900619_56900627delinsCTCTCTTTT | NCBI36 |
| NG_016194.1:g.57430_57438delinsCTCTCTTTT | |
| NG_016194.2:g.57430_57438delinsCTCTCTTTT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000265621.6:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000419558.7:c.*43-3443_*43-3435delinsCTCTCTTTT | ENSP00000416234.2:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| ENST00000423897.7:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000412356.2:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000453292.7:c.781-3443_781-3435delinsCTCTCTTTT | ENSP00000392000.2:n.781-3443_781-3435delinsCTCTCTTTT | |
| ENST00000462499.6:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499758.2:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000464624.7:c.2160-3443_2160-3435delinsCTCTCTTTT | ENSP00000499607.2:n.2160-3443_2160-3435delinsCTCTCTTTT | |
| ENST00000464788.6:c.-39+2956_-39+2964delinsCTCTCTTTT | ENSP00000499239.2:n.-39+2956_-39+2964delinsCTCTCTTTT | |
| ENST00000467227.6:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499681.2:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000467321.6:c.-39+3123_-39+3131delinsCTCTCTTTT | ENSP00000499523.2:n.-39+3123_-39+3131delinsCTCTCTTTT | |
| ENST00000468895.6:c.139+304_139+312delinsCTCTCTTTT | ENSP00000499551.2:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000469431.6:c.-39+2763_-39+2771delinsCTCTCTTTT | ENSP00000499654.2:n.-39+2763_-39+2771delinsCTCTCTTTT | |
| ENST00000470512.6:c.-39+2816_-39+2824delinsCTCTCTTTT | ENSP00000499552.2:n.-39+2816_-39+2824delinsCTCTCTTTT | |
| ENST00000472183.6:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499673.2:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000476935.6:c.-79_-71delinsCTCTCTTTT | ENSP00000499409.2:n.-79_-71delinsCTCTCTTTT | |
| ENST00000478585.6:c.-39+2816_-39+2824delinsCTCTCTTTT | ENSP00000499762.2:n.-39+2816_-39+2824delinsCTCTCTTTT | |
| ENST00000480232.6:c.-39+2620_-39+2628delinsCTCTCTTTT | ENSP00000499545.2:n.-39+2620_-39+2628delinsCTCTCTTTT | |
| ENST00000481039.6:c.-39+3261_-39+3269delinsCTCTCTTTT | ENSP00000499767.2:n.-39+3261_-39+3269delinsCTCTCTTTT | |
| ENST00000482112.6:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499794.2:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000485673.6:c.-39+2620_-39+2628delinsCTCTCTTTT | ENSP00000499334.2:n.-39+2620_-39+2628delinsCTCTCTTTT | |
| ENST00000488546.6:c.-39+3351_-39+3359delinsCTCTCTTTT | ENSP00000499332.2:n.-39+3351_-39+3359delinsCTCTCTTTT | |
| ENST00000488652.6:c.-79_-71delinsCTCTCTTTT | ENSP00000499435.2:n.-79_-71delinsCTCTCTTTT | |
| ENST00000492907.6:c.-79_-71delinsCTCTCTTTT | ENSP00000499443.2:n.-79_-71delinsCTCTCTTTT | |
| ENST00000604005.6:c.-39+2837_-39+2845delinsCTCTCTTTT | ENSP00000474219.2:n.-39+2837_-39+2845delinsCTCTCTTTT | |
| ENST00000663479.2:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499353.2:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000667293.2:c.-39+3265_-39+3273delinsCTCTCTTTT | ENSP00000499293.2:n.-39+3265_-39+3273delinsCTCTCTTTT | |
| ENST00000676826.2:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000504675.2:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000682803.1:c.-366+304_-366+312delinsCTCTCTTTT | ENSP00000507069.1:n.-366+304_-366+312delinsCTCTCTTTT | |
| ENST00000683015.1:c.909+1380_909+1388delinsCTCTCTTTT | ENSP00000506815.1:n.909+1380_909+1388delinsCTCTCTTTT | |
| ENST00000306090.12:c.44-3443_44-3435delinsCTCTCTTTT | ENSP00000304472.12:n.44-3443_44-3435delinsCTCTCTTTT | |
| ENST00000338783.7:c.139+304_139+312delinsCTCTCTTTT | ENSP00000345971.7:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000349036.8:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000265621.5:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000354359.12:c.139+304_139+312delinsCTCTCTTTT | ENSP00000346328.7:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000371085.8:c.139+304_139+312delinsCTCTCTTTT MANE Select | ENSP00000360126.3:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000371100.9:c.2069-3443_2069-3435delinsCTCTCTTTT MANE Plus Clinical | ENSP00000360141.3:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000419558.6:c.*43-3443_*43-3435delinsCTCTCTTTT | ENSP00000416234.2:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| ENST00000423897.6:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000412356.2:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000453292.6:c.*43-3443_*43-3435delinsCTCTCTTTT | ENSP00000392000.2:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| ENST00000461152.6:c.909+1380_909+1388delinsCTCTCTTTT | ENSP00000499274.1:n.909+1380_909+1388delinsCTCTCTTTT | |
| ENST00000481768.6:c.2227-3443_2227-3435delinsCTCTCTTTT | ENSP00000499644.2:n.2227-3443_2227-3435delinsCTCTCTTTT | |
| ENST00000490374.6:n.223-3443_223-3435delinsCTCTCTTTT | ||
| ENST00000657090.1:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499380.1:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000663479.1:c.-38-3443_-38-3435delinsCTCTCTTTT | ENSP00000499353.1:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| ENST00000667293.1:c.11-3443_11-3435delinsCTCTCTTTT | ENSP00000499293.1:n.11-3443_11-3435delinsCTCTCTTTT | |
| ENST00000676826.1:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000504675.1:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000265620.11:c.139+304_139+312delinsCTCTCTTTT | ENSP00000265620.7:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000306090.11:c.93+350_93+358delinsCTCTCTTTT | ENSP00000304472.11:n.93+350_93+358delinsCTCTCTTTT | |
| ENST00000313949.11:c.*43-3443_*43-3435delinsCTCTCTTTT | ENSP00000323571.7:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| ENST00000338783.6:c.106+304_106+312delinsCTCTCTTTT | ENSP00000345971.6:n.106+304_106+312delinsCTCTCTTTT | |
| ENST00000349036.7:c.188-3443_188-3435delinsCTCTCTTTT | ENSP00000265621.4:n.188-3443_188-3435delinsCTCTCTTTT | |
| ENST00000354359.11:c.139+304_139+312delinsCTCTCTTTT | ENSP00000346328.7:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000371075.7:c.*43-3443_*43-3435delinsCTCTCTTTT MANE Plus Clinical | ENSP00000360115.3:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| ENST00000371081.5:c.139+304_139+312delinsCTCTCTTTT | ENSP00000360122.1:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000371085.7:c.139+304_139+312delinsCTCTCTTTT | ENSP00000360126.3:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000371095.7:c.139+304_139+312delinsCTCTCTTTT | ENSP00000360136.3:n.139+304_139+312delinsCTCTCTTTT | |
| ENST00000371098.6:c.*43-3443_*43-3435delinsCTCTCTTTT | ENSP00000360139.2:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| ENST00000371100.8:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000360141.3:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000371102.8:c.2069-3443_2069-3435delinsCTCTCTTTT | ENSP00000360143.4:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| ENST00000419558.5:c.384-3443_384-3435delinsCTCTCTTTT | ||
| ENST00000423897.5:c.157-3443_157-3435delinsCTCTCTTTT | ||
| ENST00000450130.5:c.228-3443_228-3435delinsCTCTCTTTT | ||
| ENST00000453292.5:c.544-3443_544-3435delinsCTCTCTTTT | ENSP00000392000.1:n.544-3443_544-3435delinsCTCTCTTTT | |
| ENST00000461152.5:n.147+1380_147+1388delinsCTCTCTTTT | ||
| ENST00000462499.5:n.259-3443_259-3435delinsCTCTCTTTT | ||
| ENST00000464624.6:n.2355+304_2355+312delinsCTCTCTTTT | ||
| ENST00000464788.5:n.67+2956_67+2964delinsCTCTCTTTT | ||
| ENST00000464960.5:n.406+3351_406+3359delinsCTCTCTTTT | ||
| ENST00000467227.5:n.123-3443_123-3435delinsCTCTCTTTT | ||
| ENST00000467321.5:n.154+3123_154+3131delinsCTCTCTTTT | ||
| ENST00000468895.5:n.50+3261_50+3269delinsCTCTCTTTT | ||
| ENST00000469431.5:n.256+2763_256+2771delinsCTCTCTTTT | ||
| ENST00000470512.5:n.210+2816_210+2824delinsCTCTCTTTT | ||
| ENST00000472183.5:n.392-3443_392-3435delinsCTCTCTTTT | ||
| ENST00000476935.5:n.133_141delinsCTCTCTTTT | ||
| ENST00000477931.5:n.254+2816_254+2824delinsCTCTCTTTT | ||
| ENST00000478585.5:n.194+2816_194+2824delinsCTCTCTTTT | ||
| ENST00000480232.5:n.155+2620_155+2628delinsCTCTCTTTT | ||
| ENST00000480975.5:n.183+2816_183+2824delinsCTCTCTTTT | ||
| ENST00000481039.5:n.56+3265_56+3273delinsCTCTCTTTT | ||
| ENST00000481768.5:n.1324-3443_1324-3435delinsCTCTCTTTT | ||
| ENST00000482112.5:n.259-3443_259-3435delinsCTCTCTTTT | ||
| ENST00000484504.5:n.127+2816_127+2824delinsCTCTCTTTT | ||
| ENST00000485673.5:n.426+2620_426+2628delinsCTCTCTTTT | ||
| ENST00000488546.5:n.40+3351_40+3359delinsCTCTCTTTT | ||
| ENST00000488652.5:n.189_197delinsCTCTCTTTT | ||
| ENST00000490374.5:n.255-3443_255-3435delinsCTCTCTTTT | ||
| ENST00000491348.5:n.534-3443_534-3435delinsCTCTCTTTT | ||
| ENST00000492907.5:n.92_100delinsCTCTCTTTT | ||
| ENST00000493744.5:n.233-3443_233-3435delinsCTCTCTTTT | ||
| ENST00000604005.5:c.-39+2837_-39+2845delinsCTCTCTTTT | ENSP00000474219.1:n.-39+2837_-39+2845delinsCTCTCTTTT | |
| NM_000516.4:c.139+304_139+312delinsCTCTCTTTT | NP_000507.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_000516.5:c.139+304_139+312delinsCTCTCTTTT | NP_000507.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077488.2:c.139+304_139+312delinsCTCTCTTTT | NP_001070956.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077488.3:c.139+304_139+312delinsCTCTCTTTT | NP_001070956.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077489.2:c.139+304_139+312delinsCTCTCTTTT | NP_001070957.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077489.3:c.139+304_139+312delinsCTCTCTTTT | NP_001070957.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077490.1:c.*1-3443_*1-3435delinsCTCTCTTTT | NP_001070958.1:n.*1-3443_*1-3435delinsCTCTCTTTT | |
| NM_001077490.2:c.*1-3443_*1-3435delinsCTCTCTTTT | NP_001070958.1:n.*1-3443_*1-3435delinsCTCTCTTTT | |
| NM_001309840.1:c.-39+2816_-39+2824delinsCTCTCTTTT | NP_001296769.1:n.-39+2816_-39+2824delinsCTCTCTTTT | |
| NM_001309842.1:c.139+304_139+312delinsCTCTCTTTT | NP_001296771.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001309861.1:c.-38-3443_-38-3435delinsCTCTCTTTT | NP_001296790.1:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| NM_001309883.1:c.*159-3443_*159-3435delinsCTCTCTTTT | NP_001296812.1:n.*159-3443_*159-3435delinsCTCTCTTTT | |
| NM_016592.2:c.*43-3443_*43-3435delinsCTCTCTTTT | NP_057676.1:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| NM_016592.3:c.*43-3443_*43-3435delinsCTCTCTTTT | NP_057676.1:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| NM_080425.2:c.2069-3443_2069-3435delinsCTCTCTTTT | NP_536350.2:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| NM_080425.3:c.2069-3443_2069-3435delinsCTCTCTTTT | NP_536350.2:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| NM_080426.2:c.139+304_139+312delinsCTCTCTTTT | NP_536351.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_080426.3:c.139+304_139+312delinsCTCTCTTTT | NP_536351.1:n.139+304_139+312delinsCTCTCTTTT | |
| NR_003259.1:c.-4294967067+2816_-4294967067+2824delinsCTCTCTTTT | ||
| NR_132272.1:n.6_14delinsCTCTCTTTT | ||
| NR_132273.1:n.406+3351_406+3359delinsCTCTCTTTT | ||
| XM_017027812.2:c.2069-3443_2069-3435delinsCTCTCTTTT | XP_016883301.1:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| XM_017027813.2:c.2069-3443_2069-3435delinsCTCTCTTTT | XP_016883302.1:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| XM_017027814.2:c.2069-3443_2069-3435delinsCTCTCTTTT | XP_016883303.1:n.2069-3443_2069-3435delinsCTCTCTTTT | |
| XM_017027815.1:c.44-3443_44-3435delinsCTCTCTTTT | XP_016883304.1:n.44-3443_44-3435delinsCTCTCTTTT | |
| XM_017027816.1:c.-166+304_-166+312delinsCTCTCTTTT | XP_016883305.1:n.-166+304_-166+312delinsCTCTCTTTT | |
| XM_017027817.1:c.-39+2816_-39+2824delinsCTCTCTTTT | XP_016883306.1:n.-39+2816_-39+2824delinsCTCTCTTTT | |
| XM_017027818.2:c.-79_-71delinsCTCTCTTTT | XP_016883307.1:n.-79_-71delinsCTCTCTTTT | |
| XM_017027819.1:c.-39+2837_-39+2845delinsCTCTCTTTT | XP_016883308.1:n.-39+2837_-39+2845delinsCTCTCTTTT | |
| XM_017027821.1:c.*43-3443_*43-3435delinsCTCTCTTTT | XP_016883310.1:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| XM_017027822.1:c.*43-3443_*43-3435delinsCTCTCTTTT | XP_016883311.1:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| XM_024451872.1:c.44-3443_44-3435delinsCTCTCTTTT | XP_024307640.1:n.44-3443_44-3435delinsCTCTCTTTT | |
| XM_024451873.1:c.-79_-71delinsCTCTCTTTT | XP_024307641.1:n.-79_-71delinsCTCTCTTTT | |
| XM_024451875.1:c.-39+2837_-39+2845delinsCTCTCTTTT | XP_024307643.1:n.-39+2837_-39+2845delinsCTCTCTTTT | |
| XR_002958471.1:n.764+304_764+312delinsCTCTCTTTT | ||
| NM_000516.6:c.139+304_139+312delinsCTCTCTTTT | NP_000507.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077488.4:c.139+304_139+312delinsCTCTCTTTT | NP_001070956.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077489.4:c.139+304_139+312delinsCTCTCTTTT | NP_001070957.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001309840.2:c.-39+2816_-39+2824delinsCTCTCTTTT | NP_001296769.1:n.-39+2816_-39+2824delinsCTCTCTTTT | |
| NM_001309842.2:c.139+304_139+312delinsCTCTCTTTT | NP_001296771.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001309861.2:c.-38-3443_-38-3435delinsCTCTCTTTT | NP_001296790.1:n.-38-3443_-38-3435delinsCTCTCTTTT | |
| NM_016592.4:c.*43-3443_*43-3435delinsCTCTCTTTT | NP_057676.1:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| NM_080426.4:c.139+304_139+312delinsCTCTCTTTT | NP_536351.1:n.139+304_139+312delinsCTCTCTTTT | |
| NR_132272.2:n.7_15delinsCTCTCTTTT | ||
| NM_000516.7:c.139+304_139+312delinsCTCTCTTTT MANE Select | NP_000507.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077488.5:c.139+304_139+312delinsCTCTCTTTT | NP_001070956.1:n.139+304_139+312delinsCTCTCTTTT | |
| NM_001077490.3:c.*1-3443_*1-3435delinsCTCTCTTTT | NP_001070958.1:n.*1-3443_*1-3435delinsCTCTCTTTT | |
| NM_016592.5:c.*43-3443_*43-3435delinsCTCTCTTTT MANE Plus Clinical | NP_057676.1:n.*43-3443_*43-3435delinsCTCTCTTTT | |
| NM_080425.4:c.2069-3443_2069-3435delinsCTCTCTTTT MANE Plus Clinical | NP_536350.2:n.2069-3443_2069-3435delinsCTCTCTTTT |