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.58892218_58892224delinsTGGGGAG , CM000682.2:g.58892218_58892224delinsTGGGGAG | GRCh38 |
| NC_000020.10:g.57467273_57467279delinsTGGGGAG , CM000682.1:g.57467273_57467279delinsTGGGGAG | GRCh37 |
| NC_000020.9:g.56900668_56900674delinsTGGGGAG | NCBI36 |
| NG_016194.1:g.57479_57485delinsTGGGGAG | |
| NG_016194.2:g.57479_57485delinsTGGGGAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000265621.6:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000419558.7:c.*43-3394_*43-3388delinsTGGGGAG | ENSP00000416234.2:n.*43-3394_*43-3388delinsTGGGGAG | |
| ENST00000423897.7:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000412356.2:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000453292.7:c.781-3394_781-3388delinsTGGGGAG | ENSP00000392000.2:n.781-3394_781-3388delinsTGGGGAG | |
| ENST00000462499.6:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499758.2:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000464624.7:c.2160-3394_2160-3388delinsTGGGGAG | ENSP00000499607.2:n.2160-3394_2160-3388delinsTGGGGAG | |
| ENST00000464788.6:c.-39+3005_-39+3011delinsTGGGGAG | ENSP00000499239.2:n.-39+3005_-39+3011delinsTGGGGAG | |
| ENST00000467227.6:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499681.2:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000467321.6:c.-39+3172_-39+3178delinsTGGGGAG | ENSP00000499523.2:n.-39+3172_-39+3178delinsTGGGGAG | |
| ENST00000468895.6:c.139+353_139+359delinsTGGGGAG | ENSP00000499551.2:n.139+353_139+359delinsTGGGGAG | |
| ENST00000469431.6:c.-39+2812_-39+2818delinsTGGGGAG | ENSP00000499654.2:n.-39+2812_-39+2818delinsTGGGGAG | |
| ENST00000470512.6:c.-39+2865_-39+2871delinsTGGGGAG | ENSP00000499552.2:n.-39+2865_-39+2871delinsTGGGGAG | |
| ENST00000472183.6:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499673.2:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000476935.6:c.-39+9_-39+15delinsTGGGGAG | ENSP00000499409.2:n.-39+9_-39+15delinsTGGGGAG | |
| ENST00000478585.6:c.-39+2865_-39+2871delinsTGGGGAG | ENSP00000499762.2:n.-39+2865_-39+2871delinsTGGGGAG | |
| ENST00000480232.6:c.-39+2669_-39+2675delinsTGGGGAG | ENSP00000499545.2:n.-39+2669_-39+2675delinsTGGGGAG | |
| ENST00000481039.6:c.-39+3310_-39+3316delinsTGGGGAG | ENSP00000499767.2:n.-39+3310_-39+3316delinsTGGGGAG | |
| ENST00000482112.6:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499794.2:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000485673.6:c.-39+2669_-39+2675delinsTGGGGAG | ENSP00000499334.2:n.-39+2669_-39+2675delinsTGGGGAG | |
| ENST00000488546.6:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499332.2:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000488652.6:c.-39+9_-39+15delinsTGGGGAG | ENSP00000499435.2:n.-39+9_-39+15delinsTGGGGAG | |
| ENST00000492907.6:c.-39+9_-39+15delinsTGGGGAG | ENSP00000499443.2:n.-39+9_-39+15delinsTGGGGAG | |
| ENST00000604005.6:c.-39+2886_-39+2892delinsTGGGGAG | ENSP00000474219.2:n.-39+2886_-39+2892delinsTGGGGAG | |
| ENST00000663479.2:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499353.2:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000667293.2:c.-39+3314_-39+3320delinsTGGGGAG | ENSP00000499293.2:n.-39+3314_-39+3320delinsTGGGGAG | |
| ENST00000676826.2:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000504675.2:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000682803.1:c.-366+353_-366+359delinsTGGGGAG | ENSP00000507069.1:n.-366+353_-366+359delinsTGGGGAG | |
| ENST00000683015.1:c.909+1429_909+1435delinsTGGGGAG | ENSP00000506815.1:n.909+1429_909+1435delinsTGGGGAG | |
| ENST00000306090.12:c.44-3394_44-3388delinsTGGGGAG | ENSP00000304472.12:n.44-3394_44-3388delinsTGGGGAG | |
| ENST00000338783.7:c.139+353_139+359delinsTGGGGAG | ENSP00000345971.7:n.139+353_139+359delinsTGGGGAG | |
| ENST00000349036.8:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000265621.5:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000354359.12:c.139+353_139+359delinsTGGGGAG | ENSP00000346328.7:n.139+353_139+359delinsTGGGGAG | |
| ENST00000371085.8:c.139+353_139+359delinsTGGGGAG MANE Select | ENSP00000360126.3:n.139+353_139+359delinsTGGGGAG | |
| ENST00000371100.9:c.2069-3394_2069-3388delinsTGGGGAG MANE Plus Clinical | ENSP00000360141.3:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000419558.6:c.*43-3394_*43-3388delinsTGGGGAG | ENSP00000416234.2:n.*43-3394_*43-3388delinsTGGGGAG | |
| ENST00000423897.6:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000412356.2:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000453292.6:c.*43-3394_*43-3388delinsTGGGGAG | ENSP00000392000.2:n.*43-3394_*43-3388delinsTGGGGAG | |
| ENST00000461152.6:c.909+1429_909+1435delinsTGGGGAG | ENSP00000499274.1:n.909+1429_909+1435delinsTGGGGAG | |
| ENST00000481768.6:c.2227-3394_2227-3388delinsTGGGGAG | ENSP00000499644.2:n.2227-3394_2227-3388delinsTGGGGAG | |
| ENST00000490374.6:n.223-3394_223-3388delinsTGGGGAG | ||
| ENST00000657090.1:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499380.1:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000663479.1:c.-38-3394_-38-3388delinsTGGGGAG | ENSP00000499353.1:n.-38-3394_-38-3388delinsTGGGGAG | |
| ENST00000667293.1:c.11-3394_11-3388delinsTGGGGAG | ENSP00000499293.1:n.11-3394_11-3388delinsTGGGGAG | |
| ENST00000676826.1:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000504675.1:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000265620.11:c.139+353_139+359delinsTGGGGAG | ENSP00000265620.7:n.139+353_139+359delinsTGGGGAG | |
| ENST00000306090.11:c.93+399_93+405delinsTGGGGAG | ENSP00000304472.11:n.93+399_93+405delinsTGGGGAG | |
| ENST00000313949.11:c.*43-3394_*43-3388delinsTGGGGAG | ENSP00000323571.7:n.*43-3394_*43-3388delinsTGGGGAG | |
| ENST00000338783.6:c.106+353_106+359delinsTGGGGAG | ENSP00000345971.6:n.106+353_106+359delinsTGGGGAG | |
| ENST00000349036.7:c.188-3394_188-3388delinsTGGGGAG | ENSP00000265621.4:n.188-3394_188-3388delinsTGGGGAG | |
| ENST00000354359.11:c.139+353_139+359delinsTGGGGAG | ENSP00000346328.7:n.139+353_139+359delinsTGGGGAG | |
| ENST00000371075.7:c.*43-3394_*43-3388delinsTGGGGAG MANE Plus Clinical | ENSP00000360115.3:n.*43-3394_*43-3388delinsTGGGGAG | |
| ENST00000371081.5:c.139+353_139+359delinsTGGGGAG | ENSP00000360122.1:n.139+353_139+359delinsTGGGGAG | |
| ENST00000371085.7:c.139+353_139+359delinsTGGGGAG | ENSP00000360126.3:n.139+353_139+359delinsTGGGGAG | |
| ENST00000371095.7:c.139+353_139+359delinsTGGGGAG | ENSP00000360136.3:n.139+353_139+359delinsTGGGGAG | |
| ENST00000371098.6:c.*43-3394_*43-3388delinsTGGGGAG | ENSP00000360139.2:n.*43-3394_*43-3388delinsTGGGGAG | |
| ENST00000371100.8:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000360141.3:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000371102.8:c.2069-3394_2069-3388delinsTGGGGAG | ENSP00000360143.4:n.2069-3394_2069-3388delinsTGGGGAG | |
| ENST00000419558.5:c.384-3394_384-3388delinsTGGGGAG | ||
| ENST00000423897.5:c.157-3394_157-3388delinsTGGGGAG | ||
| ENST00000450130.5:c.228-3394_228-3388delinsTGGGGAG | ||
| ENST00000453292.5:c.544-3394_544-3388delinsTGGGGAG | ENSP00000392000.1:n.544-3394_544-3388delinsTGGGGAG | |
| ENST00000461152.5:n.147+1429_147+1435delinsTGGGGAG | ||
| ENST00000462499.5:n.259-3394_259-3388delinsTGGGGAG | ||
| ENST00000464624.6:n.2355+353_2355+359delinsTGGGGAG | ||
| ENST00000464788.5:n.67+3005_67+3011delinsTGGGGAG | ||
| ENST00000464960.5:n.407-3394_407-3388delinsTGGGGAG | ||
| ENST00000467227.5:n.123-3394_123-3388delinsTGGGGAG | ||
| ENST00000467321.5:n.154+3172_154+3178delinsTGGGGAG | ||
| ENST00000468895.5:n.50+3310_50+3316delinsTGGGGAG | ||
| ENST00000469431.5:n.256+2812_256+2818delinsTGGGGAG | ||
| ENST00000470512.5:n.210+2865_210+2871delinsTGGGGAG | ||
| ENST00000472183.5:n.392-3394_392-3388delinsTGGGGAG | ||
| ENST00000476935.5:n.173+9_173+15delinsTGGGGAG | ||
| ENST00000477931.5:n.254+2865_254+2871delinsTGGGGAG | ||
| ENST00000478585.5:n.194+2865_194+2871delinsTGGGGAG | ||
| ENST00000480232.5:n.155+2669_155+2675delinsTGGGGAG | ||
| ENST00000480975.5:n.183+2865_183+2871delinsTGGGGAG | ||
| ENST00000481039.5:n.56+3314_56+3320delinsTGGGGAG | ||
| ENST00000481768.5:n.1324-3394_1324-3388delinsTGGGGAG | ||
| ENST00000482112.5:n.259-3394_259-3388delinsTGGGGAG | ||
| ENST00000484504.5:n.127+2865_127+2871delinsTGGGGAG | ||
| ENST00000485673.5:n.426+2669_426+2675delinsTGGGGAG | ||
| ENST00000488546.5:n.41-3394_41-3388delinsTGGGGAG | ||
| ENST00000488652.5:n.229+9_229+15delinsTGGGGAG | ||
| ENST00000490374.5:n.255-3394_255-3388delinsTGGGGAG | ||
| ENST00000491348.5:n.534-3394_534-3388delinsTGGGGAG | ||
| ENST00000492907.5:n.132+9_132+15delinsTGGGGAG | ||
| ENST00000493744.5:n.233-3394_233-3388delinsTGGGGAG | ||
| ENST00000604005.5:c.-39+2886_-39+2892delinsTGGGGAG | ENSP00000474219.1:n.-39+2886_-39+2892delinsTGGGGAG | |
| NM_000516.4:c.139+353_139+359delinsTGGGGAG | NP_000507.1:n.139+353_139+359delinsTGGGGAG | |
| NM_000516.5:c.139+353_139+359delinsTGGGGAG | NP_000507.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077488.2:c.139+353_139+359delinsTGGGGAG | NP_001070956.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077488.3:c.139+353_139+359delinsTGGGGAG | NP_001070956.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077489.2:c.139+353_139+359delinsTGGGGAG | NP_001070957.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077489.3:c.139+353_139+359delinsTGGGGAG | NP_001070957.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077490.1:c.*1-3394_*1-3388delinsTGGGGAG | NP_001070958.1:n.*1-3394_*1-3388delinsTGGGGAG | |
| NM_001077490.2:c.*1-3394_*1-3388delinsTGGGGAG | NP_001070958.1:n.*1-3394_*1-3388delinsTGGGGAG | |
| NM_001309840.1:c.-39+2865_-39+2871delinsTGGGGAG | NP_001296769.1:n.-39+2865_-39+2871delinsTGGGGAG | |
| NM_001309842.1:c.139+353_139+359delinsTGGGGAG | NP_001296771.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001309861.1:c.-38-3394_-38-3388delinsTGGGGAG | NP_001296790.1:n.-38-3394_-38-3388delinsTGGGGAG | |
| NM_001309883.1:c.*159-3394_*159-3388delinsTGGGGAG | NP_001296812.1:n.*159-3394_*159-3388delinsTGGGGAG | |
| NM_016592.2:c.*43-3394_*43-3388delinsTGGGGAG | NP_057676.1:n.*43-3394_*43-3388delinsTGGGGAG | |
| NM_016592.3:c.*43-3394_*43-3388delinsTGGGGAG | NP_057676.1:n.*43-3394_*43-3388delinsTGGGGAG | |
| NM_080425.2:c.2069-3394_2069-3388delinsTGGGGAG | NP_536350.2:n.2069-3394_2069-3388delinsTGGGGAG | |
| NM_080425.3:c.2069-3394_2069-3388delinsTGGGGAG | NP_536350.2:n.2069-3394_2069-3388delinsTGGGGAG | |
| NM_080426.2:c.139+353_139+359delinsTGGGGAG | NP_536351.1:n.139+353_139+359delinsTGGGGAG | |
| NM_080426.3:c.139+353_139+359delinsTGGGGAG | NP_536351.1:n.139+353_139+359delinsTGGGGAG | |
| NR_003259.1:c.-4294967067+2865_-4294967067+2871delinsTGGGGAG | ||
| NR_132272.1:n.46+9_46+15delinsTGGGGAG | ||
| NR_132273.1:n.407-3394_407-3388delinsTGGGGAG | ||
| XM_017027812.2:c.2069-3394_2069-3388delinsTGGGGAG | XP_016883301.1:n.2069-3394_2069-3388delinsTGGGGAG | |
| XM_017027813.2:c.2069-3394_2069-3388delinsTGGGGAG | XP_016883302.1:n.2069-3394_2069-3388delinsTGGGGAG | |
| XM_017027814.2:c.2069-3394_2069-3388delinsTGGGGAG | XP_016883303.1:n.2069-3394_2069-3388delinsTGGGGAG | |
| XM_017027815.1:c.44-3394_44-3388delinsTGGGGAG | XP_016883304.1:n.44-3394_44-3388delinsTGGGGAG | |
| XM_017027816.1:c.-166+353_-166+359delinsTGGGGAG | XP_016883305.1:n.-166+353_-166+359delinsTGGGGAG | |
| XM_017027817.1:c.-39+2865_-39+2871delinsTGGGGAG | XP_016883306.1:n.-39+2865_-39+2871delinsTGGGGAG | |
| XM_017027818.2:c.-39+9_-39+15delinsTGGGGAG | XP_016883307.1:n.-39+9_-39+15delinsTGGGGAG | |
| XM_017027819.1:c.-39+2886_-39+2892delinsTGGGGAG | XP_016883308.1:n.-39+2886_-39+2892delinsTGGGGAG | |
| XM_017027821.1:c.*43-3394_*43-3388delinsTGGGGAG | XP_016883310.1:n.*43-3394_*43-3388delinsTGGGGAG | |
| XM_017027822.1:c.*43-3394_*43-3388delinsTGGGGAG | XP_016883311.1:n.*43-3394_*43-3388delinsTGGGGAG | |
| XM_024451872.1:c.44-3394_44-3388delinsTGGGGAG | XP_024307640.1:n.44-3394_44-3388delinsTGGGGAG | |
| XM_024451873.1:c.-39+9_-39+15delinsTGGGGAG | XP_024307641.1:n.-39+9_-39+15delinsTGGGGAG | |
| XM_024451875.1:c.-39+2886_-39+2892delinsTGGGGAG | XP_024307643.1:n.-39+2886_-39+2892delinsTGGGGAG | |
| XR_002958471.1:n.764+353_764+359delinsTGGGGAG | ||
| NM_000516.6:c.139+353_139+359delinsTGGGGAG | NP_000507.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077488.4:c.139+353_139+359delinsTGGGGAG | NP_001070956.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077489.4:c.139+353_139+359delinsTGGGGAG | NP_001070957.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001309840.2:c.-39+2865_-39+2871delinsTGGGGAG | NP_001296769.1:n.-39+2865_-39+2871delinsTGGGGAG | |
| NM_001309842.2:c.139+353_139+359delinsTGGGGAG | NP_001296771.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001309861.2:c.-38-3394_-38-3388delinsTGGGGAG | NP_001296790.1:n.-38-3394_-38-3388delinsTGGGGAG | |
| NM_016592.4:c.*43-3394_*43-3388delinsTGGGGAG | NP_057676.1:n.*43-3394_*43-3388delinsTGGGGAG | |
| NM_080426.4:c.139+353_139+359delinsTGGGGAG | NP_536351.1:n.139+353_139+359delinsTGGGGAG | |
| NR_132272.2:n.47+9_47+15delinsTGGGGAG | ||
| NM_000516.7:c.139+353_139+359delinsTGGGGAG MANE Select | NP_000507.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077488.5:c.139+353_139+359delinsTGGGGAG | NP_001070956.1:n.139+353_139+359delinsTGGGGAG | |
| NM_001077490.3:c.*1-3394_*1-3388delinsTGGGGAG | NP_001070958.1:n.*1-3394_*1-3388delinsTGGGGAG | |
| NM_016592.5:c.*43-3394_*43-3388delinsTGGGGAG MANE Plus Clinical | NP_057676.1:n.*43-3394_*43-3388delinsTGGGGAG | |
| NM_080425.4:c.2069-3394_2069-3388delinsTGGGGAG MANE Plus Clinical | NP_536350.2:n.2069-3394_2069-3388delinsTGGGGAG |