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_000023.11:g.19359125_19359126insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT , CM000685.2:g.19359125_19359126insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | GRCh38 |
| NC_000023.10:g.19377243_19377244insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT , CM000685.1:g.19377243_19377244insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | GRCh37 |
| NC_000023.9:g.19287164_19287165insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NCBI36 |
| NG_016781.1:g.20233_20234insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | |
| NG_021184.1:g.161136_161137insACAAAGTCCATGAGGACGCTGTACAAGCCGCCCGGCGTGTTGGTGTCGTCTTGCACGTCGATGATGTGGGGGATTCCCGCGTGGGAGAGTCCCTGCATGAGCTGGGTTTCAGCTTTCAGACTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355808.10:c.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000348062.6:n.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000379805.4:c.*700+101_*700+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000369133.3:n.*700+101_*700+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000417819.6:c.1092+101_1092+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000404616.2:n.1092+101_1092+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000423505.6:c.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000406473.2:n.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000481733.2:n.803+101_803+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ||
| ENST00000696704.1:c.*340+101_*340+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000512823.1:n.*340+101_*340+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000696705.1:c.*463+101_*463+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000512824.1:n.*463+101_*463+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000422285.7:c.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT MANE Select | ENSP00000394382.2:n.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000379804.1:c.165+101_165+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000369132.1:n.165+101_165+102insCAGTCTGAAAGCTGAAACCCAGC... | |
| ENST00000379806.9:c.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000369134.5:n.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000422285.6:c.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000394382.2:n.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCA... | |
| ENST00000478795.1:n.447+101_447+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ||
| ENST00000540249.5:c.915+101_915+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000440761.1:n.915+101_915+102insCAGTCTGAAAGCTGAAACCCAGC... | |
| ENST00000545074.5:c.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | ENSP00000438550.1:n.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCA... | |
| NM_000284.3:c.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_000275.1:n.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCAGCTCAT... | |
| NM_001173454.1:c.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_001166925.1:n.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| NM_001173455.1:c.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_001166926.1:n.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| NM_001173456.1:c.915+101_915+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_001166927.1:n.915+101_915+102insCAGTCTGAAAGCTGAAACCCAGCTCA... | |
| XM_011545531.1:c.1143+101_1143+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | XP_011543833.1:n.1143+101_1143+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| XM_011545532.1:c.1050+101_1050+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | XP_011543834.1:n.1050+101_1050+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| XM_017029574.2:c.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | XP_016885063.1:n.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| NM_000284.4:c.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT MANE Select | NP_000275.1:n.1008+101_1008+102insCAGTCTGAAAGCTGAAACCCAGCTCAT... | |
| NM_001173454.2:c.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_001166925.1:n.1122+101_1122+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| NM_001173455.2:c.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_001166926.1:n.1029+101_1029+102insCAGTCTGAAAGCTGAAACCCAGCT... | |
| NM_001173456.2:c.915+101_915+102insCAGTCTGAAAGCTGAAACCCAGCTCATGCAGGGACTCTCCCACGCGGGAATCCCCCACATCATCGACGTGCAAGACGACACCAACACGCCGGGCGGCTTGTACAGCGTCCTCATGGACTTTGT | NP_001166927.1:n.915+101_915+102insCAGTCTGAAAGCTGAAACCCAGCTCA... |