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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39847289_39847290insTGGAGTGCAATGGCGTGTTCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCTATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGG , CM000663.2:g.39847289_39847290insTGGAGTGCAATGGCGTGTTCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCTATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGG | GRCh38 |
| NC_000001.10:g.40312961_40312962insTGGAGTGCAATGGCGTGTTCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCTATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGG , CM000663.1:g.40312961_40312962insTGGAGTGCAATGGCGTGTTCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCTATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGG | GRCh37 |
| NC_000001.9:g.40085548_40085549insTGGAGTGCAATGGCGTGTTCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCTATTCTCCTACCTCAGCCTCCTGAGTAGCTGGGACTACAGG | NCBI36 |
| NG_042822.1:g.41222_41223insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316891.10:c.936_937insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA MANE Select | ENSP00000321810.5:p.Ala313ProfsTer14 | |
| ENST00000648678.1:c.1828_1829insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000497805.1:n.1828_1829insCCTGTAGTCCCAGCTACTCAGGAGGCTGA... | |
| ENST00000316891.9:c.936_937insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000321810.5:p.Ala313ProfsTer14 | |
| ENST00000372818.5:c.928+258_928+259insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000361905.1:n.928+258_928+259insCCTGTAGTCCCAGCTACTCAGGA... | |
| ENST00000441669.6:c.690_691insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000388333.2:p.Ala231ProfsTer14 | |
| ENST00000462797.5:c.936_937insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000473773.1:p.Ala313ProfsTer14 | |
| ENST00000465417.5:n.120_121insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| ENST00000467774.1:n.218_219insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| ENST00000486825.6:c.841_842insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| ENST00000489945.5:c.*354_*355insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000473745.1:n.*354_*355insCCTGTAGTCCCAGCTACTCAGGAGGCTGA... | |
| ENST00000491865.5:n.171_172insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| ENST00000492612.6:c.780_781insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| ENST00000495175.6:c.*358_*359insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000474264.1:n.*358_*359insCCTGTAGTCCCAGCTACTCAGGAGGCTGA... | |
| ENST00000537440.5:c.24_25insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000437700.1:p.Ala9ProfsTer14 | |
| ENST00000541099.5:c.-140-2650_-140-2649insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ENSP00000437896.1:n.-140-2650_-140-2649insCCTGTAGTCCCAGCTACTC... | |
| NM_001312691.1:c.928+258_928+259insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | NP_001299620.1:n.928+258_928+259insCCTGTAGTCCCAGCTACTCAGGAGGC... | |
| NM_001312692.1:c.690_691insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | NP_001299621.1:p.Ala231ProfsTer14 | |
| NM_017646.4:c.936_937insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | NP_060116.2:p.Ala313ProfsTer14 | |
| NM_017646.5:c.936_937insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | NP_060116.2:p.Ala313ProfsTer14 | |
| NR_132401.1:n.952_953insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132402.1:n.810_811insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132403.1:n.806_807insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132404.1:n.806_807insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132405.1:n.802_803insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132406.1:n.693_694insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132407.1:n.570_571insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132408.1:n.566_567insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132409.1:n.427_428insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132410.1:n.453_454insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132412.1:n.314_315insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132413.1:n.195-2650_195-2649insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132414.1:n.195-5377_195-5376insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NR_132415.1:n.1043_1044insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| XM_005270954.1:c.693_694insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | XP_005271011.1:p.Ala232ProfsTer14 | |
| XM_006710706.1:c.513_514insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | XP_006710769.1:p.Ala172ProfsTer14 | |
| XM_005270954.2:c.693_694insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | XP_005271011.1:p.Ala232ProfsTer14 | |
| XR_946672.2:n.1036_1037insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA | ||
| NM_017646.6:c.936_937insCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATAGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCTAGAACACGCCATTGCACTCCA MANE Select | NP_060116.2:p.Ala313ProfsTer14 |