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.58909759_58909760dup , CM000682.2:g.58909759_58909760dup | GRCh38 |
| NC_000020.10:g.57484814_57484815dup , CM000682.1:g.57484814_57484815dup | GRCh37 |
| NC_000020.9:g.56918209_56918210dup | NCBI36 |
| NG_016194.1:g.75020_75021dup | |
| NG_016194.2:g.75020_75021dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349036.9:c.2678_2679dup | ENSP00000265621.6:p.Leu894AlafsTer6 | |
| ENST00000419558.7:c.*652_*653dup | ENSP00000416234.2:n.*652_*653dup | |
| ENST00000453292.7:c.1393_1394dup | ENSP00000392000.2:n.1393_1394dup | |
| ENST00000462499.6:c.575_576dup | ENSP00000499758.2:p.Leu193AlafsTer6 | |
| ENST00000464624.7:c.*636_*637dup | ENSP00000499607.2:n.*636_*637dup | |
| ENST00000464788.6:c.617_618dup | ENSP00000499239.2:p.Leu207AlafsTer6 | |
| ENST00000467227.6:c.575_576dup | ENSP00000499681.2:p.Leu193AlafsTer6 | |
| ENST00000467321.6:c.617_618dup | ENSP00000499523.2:p.Leu207AlafsTer6 | |
| ENST00000468895.6:c.794_795dup | ENSP00000499551.2:p.Leu266AlafsTer6 | |
| ENST00000469431.6:c.617_618dup | ENSP00000499654.2:p.Leu207AlafsTer6 | |
| ENST00000470512.6:c.620_621dup | ENSP00000499552.2:p.Leu208AlafsTer6 | |
| ENST00000472183.6:c.617_618dup | ENSP00000499673.2:p.Leu207AlafsTer6 | |
| ENST00000475610.2:n.1300_1301dup | ||
| ENST00000476935.6:c.572_573dup | ENSP00000499409.2:p.Leu192AlafsTer6 | |
| ENST00000478585.6:c.575_576dup | ENSP00000499762.2:p.Leu193AlafsTer6 | |
| ENST00000480232.6:c.620_621dup | ENSP00000499545.2:p.Leu208AlafsTer6 | |
| ENST00000481039.6:c.575_576dup | ENSP00000499767.2:p.Leu193AlafsTer6 | |
| ENST00000482112.6:c.572_573dup | ENSP00000499794.2:p.Leu192AlafsTer6 | |
| ENST00000485673.6:c.575_576dup | ENSP00000499334.2:p.Leu193AlafsTer6 | |
| ENST00000488546.6:c.575_576dup | ENSP00000499332.2:p.Leu193AlafsTer6 | |
| ENST00000488652.6:c.617_618dup | ENSP00000499435.2:p.Leu207AlafsTer6 | |
| ENST00000492907.6:c.575_576dup | ENSP00000499443.2:p.Leu193AlafsTer6 | |
| ENST00000603546.2:c.617_618dup | ENSP00000474802.2:p.Leu207AlafsTer6 | |
| ENST00000604005.6:c.617_618dup | ENSP00000474219.2:p.Leu207AlafsTer6 | |
| ENST00000663479.2:c.620_621dup | ENSP00000499353.2:p.Leu208AlafsTer6 | |
| ENST00000667293.2:c.617_618dup | ENSP00000499293.2:p.Leu207AlafsTer6 | |
| ENST00000676826.2:c.2726_2727dup | ENSP00000504675.2:p.Leu910AlafsTer6 | |
| ENST00000682092.1:n.5078_5079dup | ||
| ENST00000682134.1:n.2720_2721dup | ||
| ENST00000682411.1:n.2889_2890dup | ||
| ENST00000682590.1:n.4981_4982dup | ||
| ENST00000682680.1:n.4995_4996dup | ||
| ENST00000682803.1:c.467_468dup | ENSP00000507069.1:p.Leu157AlafsTer6 | |
| ENST00000682829.1:n.3122_3123dup | ||
| ENST00000682917.1:n.1322_1323dup | ||
| ENST00000682986.1:n.5211_5212dup | ||
| ENST00000683015.1:c.1564_1565dup | ENSP00000506815.1:n.1564_1565dup | |
| ENST00000683632.1:n.5324_5325dup | ||
| ENST00000683932.1:n.6570_6571dup | ||
| ENST00000684284.1:n.3172_3173dup | ||
| ENST00000684466.1:n.1433_1434dup | ||
| ENST00000684644.1:n.5114_5115dup | ||
| ENST00000684761.1:n.1287_1288dup | ||
| ENST00000306090.12:c.698_699dup | ENSP00000304472.12:p.Leu234AlafsTer6 | |
| ENST00000354359.12:c.797_798dup | ENSP00000346328.7:p.Leu267AlafsTer6 | |
| ENST00000371085.8:c.794_795dup MANE Select | ENSP00000360126.3:p.Leu266AlafsTer6 | |
| ENST00000371100.9:c.2723_2724dup MANE Plus Clinical | ENSP00000360141.3:p.Leu909AlafsTer6 | |
| ENST00000656419.1:c.323_324dup | ENSP00000499614.1:p.Leu109AlafsTer6 | |
| ENST00000657090.1:c.617_618dup | ENSP00000499380.1:p.Leu207AlafsTer6 | |
| ENST00000667293.1:c.665_666dup | ENSP00000499293.1:p.Leu223AlafsTer6 | |
| ENST00000265620.11:c.749_750dup | ENSP00000265620.7:p.Leu251AlafsTer6 | |
| ENST00000306090.11:c.94-8_94-7dup | ENSP00000304472.11:n.94-8_94-7dup | |
| ENST00000313949.11:c.*697_*698dup | ENSP00000323571.7:n.*697_*698dup | |
| ENST00000354359.11:c.797_798dup | ENSP00000346328.7:p.Leu267AlafsTer6 | |
| ENST00000371075.7:c.*700_*701dup MANE Plus Clinical | ENSP00000360115.3:n.*700_*701dup | |
| ENST00000371085.7:c.794_795dup | ENSP00000360126.3:p.Leu266AlafsTer6 | |
| ENST00000371095.7:c.752_753dup | ENSP00000360136.3:p.Leu252AlafsTer6 | |
| ENST00000371100.8:c.2723_2724dup | ENSP00000360141.3:p.Leu909AlafsTer6 | |
| ENST00000371102.8:c.2681_2682dup | ENSP00000360143.4:p.Leu895AlafsTer6 | |
| ENST00000464624.6:n.3010_3011dup | ||
| ENST00000470512.5:n.868_869dup | ||
| ENST00000476196.5:n.1087_1088dup | ||
| ENST00000476935.5:n.783_784dup | ||
| ENST00000477931.5:n.909_910dup | ||
| ENST00000480232.5:n.813_814dup | ||
| ENST00000480975.5:n.793_794dup | ||
| ENST00000481039.5:n.711_712dup | ||
| ENST00000487862.5:n.1028_1029dup | ||
| ENST00000488546.5:n.653_654dup | ||
| ENST00000488652.5:n.884_885dup | ||
| ENST00000492907.5:n.745_746dup | ||
| ENST00000493958.5:n.517_518dup | ||
| ENST00000494081.5:n.349_350dup | ||
| ENST00000496934.5:n.2083_2084dup | ||
| NM_000516.4:c.794_795dup | NP_000507.1:p.Leu266AlafsTer6 | |
| NM_000516.5:c.794_795dup | NP_000507.1:p.Leu266AlafsTer6 | |
| NM_001077488.2:c.797_798dup | NP_001070956.1:p.Leu267AlafsTer6 | |
| NM_001077488.3:c.797_798dup | NP_001070956.1:p.Leu267AlafsTer6 | |
| NM_001077489.2:c.749_750dup | NP_001070957.1:p.Leu251AlafsTer6 | |
| NM_001077489.3:c.749_750dup | NP_001070957.1:p.Leu251AlafsTer6 | |
| NM_001077490.1:c.*655_*656dup | NP_001070958.1:n.*655_*656dup | |
| NM_001077490.2:c.*655_*656dup | NP_001070958.1:n.*655_*656dup | |
| NM_001309840.1:c.617_618dup | NP_001296769.1:p.Leu207AlafsTer6 | |
| NM_001309861.1:c.617_618dup | NP_001296790.1:p.Leu207AlafsTer6 | |
| NM_016592.2:c.*700_*701dup | NP_057676.1:n.*700_*701dup | |
| NM_016592.3:c.*700_*701dup | NP_057676.1:n.*700_*701dup | |
| NM_080425.2:c.2723_2724dup | NP_536350.2:p.Leu909AlafsTer6 | |
| NM_080425.3:c.2723_2724dup | NP_536350.2:p.Leu909AlafsTer6 | |
| NM_080426.2:c.752_753dup | NP_536351.1:p.Leu252AlafsTer6 | |
| NM_080426.3:c.752_753dup | NP_536351.1:p.Leu252AlafsTer6 | |
| NR_003259.1:c.-4294966412_-4294966411dup | ||
| XM_017027812.2:c.2726_2727dup | XP_016883301.1:p.Leu910AlafsTer6 | |
| XM_017027813.2:c.2681_2682dup | XP_016883302.1:p.Leu895AlafsTer6 | |
| XM_017027814.2:c.2678_2679dup | XP_016883303.1:p.Leu894AlafsTer6 | |
| XM_017027815.1:c.653_654dup | XP_016883304.1:p.Leu219AlafsTer6 | |
| XM_017027816.1:c.572_573dup | XP_016883305.1:p.Leu192AlafsTer6 | |
| XM_017027817.1:c.572_573dup | XP_016883306.1:p.Leu192AlafsTer6 | |
| XM_017027818.2:c.572_573dup | XP_016883307.1:p.Leu192AlafsTer6 | |
| XM_017027819.1:c.572_573dup | XP_016883308.1:p.Leu192AlafsTer6 | |
| XM_017027820.1:c.572_573dup | XP_016883309.1:p.Leu192AlafsTer6 | |
| XM_024451872.1:c.698_699dup | XP_024307640.1:p.Leu234AlafsTer6 | |
| XM_024451873.1:c.617_618dup | XP_024307641.1:p.Leu207AlafsTer6 | |
| XM_024451874.1:c.617_618dup | XP_024307642.1:p.Leu207AlafsTer6 | |
| XM_024451875.1:c.617_618dup | XP_024307643.1:p.Leu207AlafsTer6 | |
| XR_002958471.1:n.1501_1502dup | ||
| NM_000516.6:c.794_795dup | NP_000507.1:p.Leu266AlafsTer6 | |
| NM_001077488.4:c.797_798dup | NP_001070956.1:p.Leu267AlafsTer6 | |
| NM_001077489.4:c.749_750dup | NP_001070957.1:p.Leu251AlafsTer6 | |
| NM_001309840.2:c.617_618dup | NP_001296769.1:p.Leu207AlafsTer6 | |
| NM_001309861.2:c.617_618dup | NP_001296790.1:p.Leu207AlafsTer6 | |
| NM_016592.4:c.*700_*701dup | NP_057676.1:n.*700_*701dup | |
| NM_080426.4:c.752_753dup | NP_536351.1:p.Leu252AlafsTer6 | |
| NM_000516.7:c.794_795dup MANE Select | NP_000507.1:p.Leu266AlafsTer6 | |
| NM_001077488.5:c.797_798dup | NP_001070956.1:p.Leu267AlafsTer6 | |
| NM_001077490.3:c.*655_*656dup | NP_001070958.1:n.*655_*656dup | |
| NM_016592.5:c.*700_*701dup MANE Plus Clinical | NP_057676.1:n.*700_*701dup | |
| NM_080425.4:c.2723_2724dup MANE Plus Clinical | NP_536350.2:p.Leu909AlafsTer6 |