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 allow 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 allow 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_000009.12:g.114424694_114424695insCCTGCACTCCAGCTTGGGTGACAGAGCAAGAAGCCATCTCGAAAAACAAAAAGAAAGTCAAACTGGGCTTGGGCTCCAGAGACAAAAGGGTGGCCTCTTGGG , CM000671.2:g.114424694_114424695insCCTGCACTCCAGCTTGGGTGACAGAGCAAGAAGCCATCTCGAAAAACAAAAAGAAAGTCAAACTGGGCTTGGGCTCCAGAGACAAAAGGGTGGCCTCTTGGG | GRCh38 |
| NC_000009.11:g.117186974_117186975insCCTGCACTCCAGCTTGGGTGACAGAGCAAGAAGCCATCTCGAAAAACAAAAAGAAAGTCAAACTGGGCTTGGGCTCCAGAGACAAAAGGGTGGCCTCTTGGG , CM000671.1:g.117186974_117186975insCCTGCACTCCAGCTTGGGTGACAGAGCAAGAAGCCATCTCGAAAAACAAAAAGAAAGTCAAACTGGGCTTGGGCTCCAGAGACAAAAGGGTGGCCTCTTGGG | GRCh37 |
| NC_000009.10:g.116226795_116226796insCCTGCACTCCAGCTTGGGTGACAGAGCAAGAAGCCATCTCGAAAAACAAAAAGAAAGTCAAACTGGGCTTGGGCTCCAGAGACAAAAGGGTGGCCTCTTGGG | NCBI36 |
| NG_016700.1:g.85762_85763insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699486.1:c.928-149_928-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ENSP00000514397.1:n.928-149_928-148insCCCAAGAGGCCACCCTTTTGTCT... | |
| ENST00000362057.4:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG MANE Select | ENSP00000354623.3:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGT... | |
| ENST00000673811.1:n.2138-149_2138-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| ENST00000674036.8:c.387-149_387-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| ENST00000674048.1:n.1085-149_1085-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| ENST00000265134.10:c.55-149_55-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ENSP00000265134.6:n.55-149_55-148insCCCAAGAGGCCACCCTTTTGTCTCT... | |
| ENST00000362057.3:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ENSP00000354623.3:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGT... | |
| ENST00000374059.7:c.151-149_151-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ENSP00000363172.3:n.151-149_151-148insCCCAAGAGGCCACCCTTTTGTCT... | |
| NM_001083885.2:c.55-149_55-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | NP_001077354.2:n.55-149_55-148insCCCAAGAGGCCACCCTTTTGTCTCTGGA... | |
| NM_001173425.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | NP_001166896.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| NM_015404.3:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | NP_056219.3:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGG... | |
| XM_005251897.3:c.964-16677_964-16676insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_005251954.2:n.964-16677_964-16676insCCCAAGAGGCCACCCTTTTGTC... | |
| XM_011518484.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516786.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518485.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516787.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518486.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516788.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518487.1:c.1078-149_1078-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516789.1:n.1078-149_1078-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518488.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516790.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518489.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516791.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518490.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516792.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518491.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516793.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518492.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516794.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518493.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516795.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518494.1:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516796.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518495.1:c.-120-149_-120-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516797.1:n.-120-149_-120-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XR_929747.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929748.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929749.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929750.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929751.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929752.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929753.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929754.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929755.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929756.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929757.1:n.1912-149_1912-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| NM_001346890.1:c.151-149_151-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | NP_001333819.1:n.151-149_151-148insCCCAAGAGGCCACCCTTTTGTCTCTG... | |
| XM_011518486.2:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516788.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518487.2:c.1078-149_1078-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516789.1:n.1078-149_1078-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518488.2:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516790.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518489.3:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516791.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518491.3:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516793.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518492.2:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516794.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XM_011518494.3:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | XP_011516796.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| XR_929747.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929748.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929749.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929750.3:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929752.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929753.3:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929754.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929755.3:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929756.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| XR_929757.2:n.1223-149_1223-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | ||
| NM_015404.4:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG MANE Select | NP_056219.3:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGG... | |
| NM_001173425.2:c.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | NP_001166896.1:n.1204-149_1204-148insCCCAAGAGGCCACCCTTTTGTCTC... | |
| NM_001083885.3:c.55-149_55-148insCCCAAGAGGCCACCCTTTTGTCTCTGGAGCCCAAGCCCAGTTTGACTTTCTTTTTGTTTTTCGAGATGGCTTCTTGCTCTGTCACCCAAGCTGGAGTGCAGG | NP_001077354.2:n.55-149_55-148insCCCAAGAGGCCACCCTTTTGTCTCTGGA... |