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.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.58891397_58891409delinsAGCGGCGGCGGCG , CM000682.2:g.58891397_58891409delinsAGCGGCGGCGGCG | GRCh38 |
| NC_000020.10:g.57466452_57466464delinsAGCGGCGGCGGCG , CM000682.1:g.57466452_57466464delinsAGCGGCGGCGGCG | GRCh37 |
| NC_000020.9:g.56899847_56899859delinsAGCGGCGGCGGCG | NCBI36 |
| NG_016194.1:g.56658_56670delinsAGCGGCGGCGGCG | |
| NG_016194.2:g.56658_56670delinsAGCGGCGGCGGCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000265621.6:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000419558.7:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | ENSP00000416234.2:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| ENST00000423897.7:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000412356.2:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000453292.7:c.781-4215_781-4203delinsAGCGGCGGCGGCG | ENSP00000392000.2:n.781-4215_781-4203delinsAGCGGCGGCGGCG | |
| ENST00000462499.6:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499758.2:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000464624.7:c.2160-4215_2160-4203delinsAGCGGCGGCGGCG | ENSP00000499607.2:n.2160-4215_2160-4203delinsAGCGGCGGCGGCG | |
| ENST00000464788.6:c.-39+2184_-39+2196delinsAGCGGCGGCGGCG | ENSP00000499239.2:n.-39+2184_-39+2196delinsAGCGGCGGCGGCG | |
| ENST00000467227.6:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499681.2:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000467321.6:c.-39+2351_-39+2363delinsAGCGGCGGCGGCG | ENSP00000499523.2:n.-39+2351_-39+2363delinsAGCGGCGGCGGCG | |
| ENST00000469431.6:c.-39+1991_-39+2003delinsAGCGGCGGCGGCG | ENSP00000499654.2:n.-39+1991_-39+2003delinsAGCGGCGGCGGCG | |
| ENST00000470512.6:c.-39+2044_-39+2056delinsAGCGGCGGCGGCG | ENSP00000499552.2:n.-39+2044_-39+2056delinsAGCGGCGGCGGCG | |
| ENST00000472183.6:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499673.2:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000478585.6:c.-39+2044_-39+2056delinsAGCGGCGGCGGCG | ENSP00000499762.2:n.-39+2044_-39+2056delinsAGCGGCGGCGGCG | |
| ENST00000480232.6:c.-39+1848_-39+1860delinsAGCGGCGGCGGCG | ENSP00000499545.2:n.-39+1848_-39+1860delinsAGCGGCGGCGGCG | |
| ENST00000481039.6:c.-39+2489_-39+2501delinsAGCGGCGGCGGCG | ENSP00000499767.2:n.-39+2489_-39+2501delinsAGCGGCGGCGGCG | |
| ENST00000482112.6:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499794.2:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000485673.6:c.-39+1848_-39+1860delinsAGCGGCGGCGGCG | ENSP00000499334.2:n.-39+1848_-39+1860delinsAGCGGCGGCGGCG | |
| ENST00000488546.6:c.-39+2579_-39+2591delinsAGCGGCGGCGGCG | ENSP00000499332.2:n.-39+2579_-39+2591delinsAGCGGCGGCGGCG | |
| ENST00000604005.6:c.-39+2065_-39+2077delinsAGCGGCGGCGGCG | ENSP00000474219.2:n.-39+2065_-39+2077delinsAGCGGCGGCGGCG | |
| ENST00000663479.2:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499353.2:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000667293.2:c.-39+2493_-39+2505delinsAGCGGCGGCGGCG | ENSP00000499293.2:n.-39+2493_-39+2505delinsAGCGGCGGCGGCG | |
| ENST00000676826.2:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000504675.2:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000683015.1:c.909+608_909+620delinsAGCGGCGGCGGCG | ENSP00000506815.1:n.909+608_909+620delinsAGCGGCGGCGGCG | |
| ENST00000306090.12:c.44-4215_44-4203delinsAGCGGCGGCGGCG | ENSP00000304472.12:n.44-4215_44-4203delinsAGCGGCGGCGGCG | |
| ENST00000349036.8:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000265621.5:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000371100.9:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG MANE Plus Clinical | ENSP00000360141.3:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000419558.6:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | ENSP00000416234.2:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| ENST00000423897.6:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000412356.2:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000453292.6:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | ENSP00000392000.2:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| ENST00000461152.6:c.909+608_909+620delinsAGCGGCGGCGGCG | ENSP00000499274.1:n.909+608_909+620delinsAGCGGCGGCGGCG | |
| ENST00000481768.6:c.2227-4215_2227-4203delinsAGCGGCGGCGGCG | ENSP00000499644.2:n.2227-4215_2227-4203delinsAGCGGCGGCGGCG | |
| ENST00000490374.6:n.223-4215_223-4203delinsAGCGGCGGCGGCG | ||
| ENST00000657090.1:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499380.1:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000663479.1:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | ENSP00000499353.1:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| ENST00000667293.1:c.11-4215_11-4203delinsAGCGGCGGCGGCG | ENSP00000499293.1:n.11-4215_11-4203delinsAGCGGCGGCGGCG | |
| ENST00000676826.1:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000504675.1:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000265620.11:c.-330_-318delinsAGCGGCGGCGGCG | ENSP00000265620.7:n.-330_-318delinsAGCGGCGGCGGCG | |
| ENST00000313949.11:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | ENSP00000323571.7:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| ENST00000349036.7:c.188-4215_188-4203delinsAGCGGCGGCGGCG | ENSP00000265621.4:n.188-4215_188-4203delinsAGCGGCGGCGGCG | |
| ENST00000354359.11:c.-330_-318delinsAGCGGCGGCGGCG | ENSP00000346328.7:n.-330_-318delinsAGCGGCGGCGGCG | |
| ENST00000371075.7:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG MANE Plus Clinical | ENSP00000360115.3:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| ENST00000371085.7:c.-330_-318delinsAGCGGCGGCGGCG | ENSP00000360126.3:n.-330_-318delinsAGCGGCGGCGGCG | |
| ENST00000371095.7:c.-330_-318delinsAGCGGCGGCGGCG | ENSP00000360136.3:n.-330_-318delinsAGCGGCGGCGGCG | |
| ENST00000371098.6:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | ENSP00000360139.2:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| ENST00000371100.8:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000360141.3:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000371102.8:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | ENSP00000360143.4:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| ENST00000419558.5:c.384-4215_384-4203delinsAGCGGCGGCGGCG | ||
| ENST00000423897.5:c.157-4215_157-4203delinsAGCGGCGGCGGCG | ||
| ENST00000450130.5:c.228-4215_228-4203delinsAGCGGCGGCGGCG | ||
| ENST00000453292.5:c.544-4215_544-4203delinsAGCGGCGGCGGCG | ENSP00000392000.1:n.544-4215_544-4203delinsAGCGGCGGCGGCG | |
| ENST00000461152.5:n.147+608_147+620delinsAGCGGCGGCGGCG | ||
| ENST00000462499.5:n.259-4215_259-4203delinsAGCGGCGGCGGCG | ||
| ENST00000464624.6:n.2072-185_2072-173delinsAGCGGCGGCGGCG | ||
| ENST00000464788.5:n.67+2184_67+2196delinsAGCGGCGGCGGCG | ||
| ENST00000464960.5:n.406+2579_406+2591delinsAGCGGCGGCGGCG | ||
| ENST00000467227.5:n.123-4215_123-4203delinsAGCGGCGGCGGCG | ||
| ENST00000467321.5:n.154+2351_154+2363delinsAGCGGCGGCGGCG | ||
| ENST00000468895.5:n.50+2489_50+2501delinsAGCGGCGGCGGCG | ||
| ENST00000469431.5:n.256+1991_256+2003delinsAGCGGCGGCGGCG | ||
| ENST00000470512.5:n.210+2044_210+2056delinsAGCGGCGGCGGCG | ||
| ENST00000472183.5:n.392-4215_392-4203delinsAGCGGCGGCGGCG | ||
| ENST00000477931.5:n.254+2044_254+2056delinsAGCGGCGGCGGCG | ||
| ENST00000478585.5:n.194+2044_194+2056delinsAGCGGCGGCGGCG | ||
| ENST00000480232.5:n.155+1848_155+1860delinsAGCGGCGGCGGCG | ||
| ENST00000480975.5:n.183+2044_183+2056delinsAGCGGCGGCGGCG | ||
| ENST00000481039.5:n.56+2493_56+2505delinsAGCGGCGGCGGCG | ||
| ENST00000481768.5:n.1324-4215_1324-4203delinsAGCGGCGGCGGCG | ||
| ENST00000482112.5:n.259-4215_259-4203delinsAGCGGCGGCGGCG | ||
| ENST00000484504.5:n.127+2044_127+2056delinsAGCGGCGGCGGCG | ||
| ENST00000485673.5:n.426+1848_426+1860delinsAGCGGCGGCGGCG | ||
| ENST00000488546.5:n.40+2579_40+2591delinsAGCGGCGGCGGCG | ||
| ENST00000490374.5:n.255-4215_255-4203delinsAGCGGCGGCGGCG | ||
| ENST00000491348.5:n.534-4215_534-4203delinsAGCGGCGGCGGCG | ||
| ENST00000493744.5:n.233-4215_233-4203delinsAGCGGCGGCGGCG | ||
| ENST00000604005.5:c.-39+2065_-39+2077delinsAGCGGCGGCGGCG | ENSP00000474219.1:n.-39+2065_-39+2077delinsAGCGGCGGCGGCG | |
| NM_000516.4:c.-330_-318delinsAGCGGCGGCGGCG | NP_000507.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_000516.5:c.-330_-318delinsAGCGGCGGCGGCG | NP_000507.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_001077488.2:c.-330_-318delinsAGCGGCGGCGGCG | NP_001070956.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_001077488.3:c.-330_-318delinsAGCGGCGGCGGCG | NP_001070956.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_001077489.2:c.-330_-318delinsAGCGGCGGCGGCG | NP_001070957.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_001077489.3:c.-330_-318delinsAGCGGCGGCGGCG | NP_001070957.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_001077490.1:c.*1-4215_*1-4203delinsAGCGGCGGCGGCG | NP_001070958.1:n.*1-4215_*1-4203delinsAGCGGCGGCGGCG | |
| NM_001077490.2:c.*1-4215_*1-4203delinsAGCGGCGGCGGCG | NP_001070958.1:n.*1-4215_*1-4203delinsAGCGGCGGCGGCG | |
| NM_001309840.1:c.-39+2044_-39+2056delinsAGCGGCGGCGGCG | NP_001296769.1:n.-39+2044_-39+2056delinsAGCGGCGGCGGCG | |
| NM_001309842.1:c.-330_-318delinsAGCGGCGGCGGCG | NP_001296771.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_001309861.1:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | NP_001296790.1:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| NM_001309883.1:c.*159-4215_*159-4203delinsAGCGGCGGCGGCG | NP_001296812.1:n.*159-4215_*159-4203delinsAGCGGCGGCGGCG | |
| NM_016592.2:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | NP_057676.1:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| NM_016592.3:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | NP_057676.1:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| NM_080425.2:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | NP_536350.2:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| NM_080425.3:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | NP_536350.2:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| NM_080426.2:c.-330_-318delinsAGCGGCGGCGGCG | NP_536351.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NM_080426.3:c.-330_-318delinsAGCGGCGGCGGCG | NP_536351.1:n.-330_-318delinsAGCGGCGGCGGCG | |
| NR_003259.1:c.-4294967067+2044_-4294967067+2056delinsAGCGGCGGCGGCG | ||
| NR_132273.1:n.406+2579_406+2591delinsAGCGGCGGCGGCG | ||
| XM_017027812.2:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | XP_016883301.1:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| XM_017027813.2:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | XP_016883302.1:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| XM_017027814.2:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG | XP_016883303.1:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG | |
| XM_017027815.1:c.44-4215_44-4203delinsAGCGGCGGCGGCG | XP_016883304.1:n.44-4215_44-4203delinsAGCGGCGGCGGCG | |
| XM_017027816.1:c.-634_-622delinsAGCGGCGGCGGCG | XP_016883305.1:n.-634_-622delinsAGCGGCGGCGGCG | |
| XM_017027817.1:c.-39+2044_-39+2056delinsAGCGGCGGCGGCG | XP_016883306.1:n.-39+2044_-39+2056delinsAGCGGCGGCGGCG | |
| XM_017027819.1:c.-39+2065_-39+2077delinsAGCGGCGGCGGCG | XP_016883308.1:n.-39+2065_-39+2077delinsAGCGGCGGCGGCG | |
| XM_017027821.1:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | XP_016883310.1:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| XM_017027822.1:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | XP_016883311.1:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| XM_024451872.1:c.44-4215_44-4203delinsAGCGGCGGCGGCG | XP_024307640.1:n.44-4215_44-4203delinsAGCGGCGGCGGCG | |
| XM_024451875.1:c.-39+2065_-39+2077delinsAGCGGCGGCGGCG | XP_024307643.1:n.-39+2065_-39+2077delinsAGCGGCGGCGGCG | |
| XR_002958471.1:n.296_308delinsAGCGGCGGCGGCG | ||
| NM_001309840.2:c.-39+2044_-39+2056delinsAGCGGCGGCGGCG | NP_001296769.1:n.-39+2044_-39+2056delinsAGCGGCGGCGGCG | |
| NM_001309861.2:c.-38-4215_-38-4203delinsAGCGGCGGCGGCG | NP_001296790.1:n.-38-4215_-38-4203delinsAGCGGCGGCGGCG | |
| NM_016592.4:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG | NP_057676.1:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| NM_001077490.3:c.*1-4215_*1-4203delinsAGCGGCGGCGGCG | NP_001070958.1:n.*1-4215_*1-4203delinsAGCGGCGGCGGCG | |
| NM_016592.5:c.*43-4215_*43-4203delinsAGCGGCGGCGGCG MANE Plus Clinical | NP_057676.1:n.*43-4215_*43-4203delinsAGCGGCGGCGGCG | |
| NM_080425.4:c.2069-4215_2069-4203delinsAGCGGCGGCGGCG MANE Plus Clinical | NP_536350.2:n.2069-4215_2069-4203delinsAGCGGCGGCGGCG |