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_000016.10:g.2088503_2088504insTTTTTTTTTTAATG , CM000678.2:g.2088503_2088504insTTTTTTTTTTAATG | GRCh38 |
| NC_000016.9:g.2138504_2138505insTTTTTTTTTTAATG , CM000678.1:g.2138504_2138505insTTTTTTTTTTAATG | GRCh37 |
| NC_000016.8:g.2078505_2078506insTTTTTTTTTTAATG | NCBI36 |
| NG_005895.1:g.44198_44199insTTTTTTTTTTAATG , LRG_487:g.44198_44199insTTTTTTTTTTAATG | |
| NG_008617.1:g.54717_54718insCATTAAAAAAAAAA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000568566.6:c.*3666_*3667insTTTTTTTTTTAATG | ENSP00000455997.2:n.*3666_*3667insTTTTTTTTTTAATG | |
| ENST00000642206.2:c.5164_5165insTTTTTTTTTTAATG | ENSP00000495146.2:p.His1722LeufsTer? | |
| ENST00000642365.2:c.5314_5315insTTTTTTTTTTAATG | ENSP00000495459.2:p.His1772LeufsTer? | |
| ENST00000644417.2:c.*5830_*5831insTTTTTTTTTTAATG | ENSP00000493912.2:n.*5830_*5831insTTTTTTTTTTAATG | |
| ENST00000646464.2:c.*8066_*8067insTTTTTTTTTTAATG | ENSP00000496610.2:n.*8066_*8067insTTTTTTTTTTAATG | |
| ENST00000219476.9:c.5317_5318insTTTTTTTTTTAATG MANE Select | ENSP00000219476.3:p.His1773LeufsTer? | |
| ENST00000350773.9:c.5248_5249insTTTTTTTTTTAATG | ENSP00000344383.4:p.His1750LeufsTer? | |
| ENST00000401874.7:c.5116_5117insTTTTTTTTTTAATG | ENSP00000384468.2:p.His1706LeufsTer? | |
| ENST00000568454.6:c.5149_5150insTTTTTTTTTTAATG | ENSP00000454487.1:p.His1717LeufsTer? | |
| ENST00000569110.2:c.1540_1541insTTTTTTTTTTAATG | ||
| ENST00000569930.2:n.3199_3200insTTTTTTTTTTAATG | ||
| ENST00000642365.1:c.3971_3972insTTTTTTTTTTAATG | ||
| ENST00000642561.1:c.5176_5177insTTTTTTTTTTAATG | ENSP00000495099.1:p.His1726LeufsTer? | |
| ENST00000642791.1:n.914_915insTTTTTTTTTTAATG | ||
| ENST00000642797.1:c.5119_5120insTTTTTTTTTTAATG | ENSP00000493846.1:p.His1707LeufsTer? | |
| ENST00000642936.1:c.5185_5186insTTTTTTTTTTAATG | ENSP00000494514.1:p.His1729LeufsTer? | |
| ENST00000643088.1:c.5110_5111insTTTTTTTTTTAATG | ENSP00000494747.1:p.His1704LeufsTer? | |
| ENST00000643426.1:n.2965_2966insTTTTTTTTTTAATG | ||
| ENST00000643946.1:c.5242_5243insTTTTTTTTTTAATG | ENSP00000495927.1:p.His1748LeufsTer? | |
| ENST00000644043.1:c.5188_5189insTTTTTTTTTTAATG | ENSP00000496262.1:p.His1730LeufsTer? | |
| ENST00000644329.1:c.5203_5204insTTTTTTTTTTAATG | ENSP00000496611.1:p.His1735LeufsTer? | |
| ENST00000644335.1:c.5113_5114insTTTTTTTTTTAATG | ENSP00000496317.1:p.His1705LeufsTer? | |
| ENST00000644399.1:c.5238_5239insTTTTTTTTTTAATG | ||
| ENST00000645024.1:n.3401_3402insTTTTTTTTTTAATG | ||
| ENST00000646388.1:c.5311_5312insTTTTTTTTTTAATG | ENSP00000495921.1:p.His1771LeufsTer? | |
| ENST00000646634.1:n.4132_4133insTTTTTTTTTTAATG | ||
| ENST00000646674.1:n.2569_2570insTTTTTTTTTTAATG | ||
| ENST00000647042.1:n.2540_2541insTTTTTTTTTTAATG | ||
| ENST00000647180.1:n.2430_2431insTTTTTTTTTTAATG | ||
| ENST00000219476.7:c.5317_5318insTTTTTTTTTTAATG | ENSP00000219476.3:p.His1773LeufsTer? | |
| ENST00000350773.8:c.5248_5249insTTTTTTTTTTAATG | ENSP00000344383.4:p.His1750LeufsTer? | |
| ENST00000382538.10:c.4972_4973insTTTTTTTTTTAATG | ENSP00000371978.6:p.His1658LeufsTer? | |
| ENST00000401874.6:c.5116_5117insTTTTTTTTTTAATG | ENSP00000384468.2:p.His1706LeufsTer? | |
| ENST00000439117.6:c.*4484_*4485insTTTTTTTTTTAATG | ENSP00000406980.2:n.*4484_*4485insTTTTTTTTTTAATG | |
| ENST00000439673.6:c.5008_5009insTTTTTTTTTTAATG | ENSP00000399232.2:p.His1670LeufsTer? | |
| ENST00000497886.5:n.3040_3041insTTTTTTTTTTAATG | ||
| ENST00000568454.5:c.5149_5150insTTTTTTTTTTAATG | ENSP00000454487.1:p.His1717LeufsTer? | |
| ENST00000569110.1:c.1499_1500insTTTTTTTTTTAATG | ||
| ENST00000569930.1:n.2432_2433insTTTTTTTTTTAATG | ||
| NM_000548.3:c.5317_5318insTTTTTTTTTTAATG , LRG_487t1:c.5317_5318insTTTTTTTTTTAATG | NP_000539.2:p.His1773LeufsTer? | |
| NM_001077183.1:c.5116_5117insTTTTTTTTTTAATG | NP_001070651.1:p.His1706LeufsTer? | |
| NM_001114382.1:c.5248_5249insTTTTTTTTTTAATG | NP_001107854.1:p.His1750LeufsTer? | |
| XM_005255529.3:c.5188_5189insTTTTTTTTTTAATG | XP_005255586.2:p.His1730LeufsTer? | |
| XM_005255531.3:c.5119_5120insTTTTTTTTTTAATG | XP_005255588.2:p.His1707LeufsTer? | |
| XM_011522636.1:c.5371_5372insTTTTTTTTTTAATG | XP_011520938.1:p.His1791LeufsTer? | |
| XM_011522637.1:c.5368_5369insTTTTTTTTTTAATG | XP_011520939.1:p.His1790LeufsTer? | |
| XM_011522638.1:c.5260_5261insTTTTTTTTTTAATG | XP_011520940.1:p.His1754LeufsTer? | |
| XM_011522639.1:c.5242_5243insTTTTTTTTTTAATG | XP_011520941.1:p.His1748LeufsTer? | |
| XM_011522640.1:c.5239_5240insTTTTTTTTTTAATG | XP_011520942.1:p.His1747LeufsTer? | |
| XM_011522641.1:c.5008_5009insTTTTTTTTTTAATG | XP_011520943.1:p.His1670LeufsTer? | |
| NM_000548.4:c.5317_5318insTTTTTTTTTTAATG | NP_000539.2:p.His1773LeufsTer? | |
| NM_001077183.2:c.5116_5117insTTTTTTTTTTAATG | NP_001070651.1:p.His1706LeufsTer? | |
| NM_001114382.2:c.5248_5249insTTTTTTTTTTAATG | NP_001107854.1:p.His1750LeufsTer? | |
| NM_001318827.1:c.5008_5009insTTTTTTTTTTAATG | NP_001305756.1:p.His1670LeufsTer? | |
| NM_001318829.1:c.4972_4973insTTTTTTTTTTAATG | NP_001305758.1:p.His1658LeufsTer? | |
| NM_001318831.1:c.4585_4586insTTTTTTTTTTAATG | NP_001305760.1:p.His1529LeufsTer? | |
| NM_001318832.1:c.5149_5150insTTTTTTTTTTAATG | NP_001305761.1:p.His1717LeufsTer? | |
| NM_001363528.1:c.5119_5120insTTTTTTTTTTAATG | NP_001350457.1:p.His1707LeufsTer? | |
| NM_021055.2:c.5188_5189insTTTTTTTTTTAATG | NP_066399.2:p.His1730LeufsTer? | |
| XM_005255531.4:c.5119_5120insTTTTTTTTTTAATG | XP_005255588.2:p.His1707LeufsTer? | |
| XM_011522636.2:c.5371_5372insTTTTTTTTTTAATG | XP_011520938.1:p.His1791LeufsTer? | |
| XM_011522637.2:c.5368_5369insTTTTTTTTTTAATG | XP_011520939.1:p.His1790LeufsTer? | |
| XM_011522638.2:c.5533_5534insTTTTTTTTTTAATG | XP_011520940.2:p.His1845LeufsTer? | |
| XM_011522639.2:c.5242_5243insTTTTTTTTTTAATG | XP_011520941.1:p.His1748LeufsTer? | |
| XM_011522640.2:c.5239_5240insTTTTTTTTTTAATG | XP_011520942.1:p.His1747LeufsTer? | |
| XM_017023615.1:c.5314_5315insTTTTTTTTTTAATG | XP_016879104.1:p.His1772LeufsTer? | |
| XM_017023616.1:c.5185_5186insTTTTTTTTTTAATG | XP_016879105.1:p.His1729LeufsTer? | |
| XM_017023617.1:c.5281_5282insTTTTTTTTTTAATG | XP_016879106.1:p.His1761LeufsTer? | |
| XM_017023618.1:c.4027_4028insTTTTTTTTTTAATG | XP_016879107.1:p.His1343LeufsTer? | |
| XM_024450413.1:c.5203_5204insTTTTTTTTTTAATG | XP_024306181.1:p.His1735LeufsTer? | |
| NM_000548.5:c.5317_5318insTTTTTTTTTTAATG MANE Select | NP_000539.2:p.His1773LeufsTer? | |
| NM_001370404.1:c.5185_5186insTTTTTTTTTTAATG | NP_001357333.1:p.His1729LeufsTer? | |
| NM_001370405.1:c.5176_5177insTTTTTTTTTTAATG | NP_001357334.1:p.His1726LeufsTer? | |
| NM_001077183.3:c.5116_5117insTTTTTTTTTTAATG | NP_001070651.1:p.His1706LeufsTer? | |
| NM_001114382.3:c.5248_5249insTTTTTTTTTTAATG | NP_001107854.1:p.His1750LeufsTer? | |
| NM_001318827.2:c.5008_5009insTTTTTTTTTTAATG | NP_001305756.1:p.His1670LeufsTer? | |
| NM_001318829.2:c.4972_4973insTTTTTTTTTTAATG | NP_001305758.1:p.His1658LeufsTer? | |
| NM_001318831.2:c.4585_4586insTTTTTTTTTTAATG | NP_001305760.1:p.His1529LeufsTer? | |
| NM_001318832.2:c.5149_5150insTTTTTTTTTTAATG | NP_001305761.1:p.His1717LeufsTer? | |
| NM_001363528.2:c.5119_5120insTTTTTTTTTTAATG | NP_001350457.1:p.His1707LeufsTer? | |
| NM_021055.3:c.5188_5189insTTTTTTTTTTAATG | NP_066399.2:p.His1730LeufsTer? |