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_000009.12:g.104914811_104914812insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT , CM000671.2:g.104914811_104914812insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT | GRCh38 |
| NC_000009.11:g.107677092_107677093insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT , CM000671.1:g.107677092_107677093insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT | GRCh37 |
| NC_000009.10:g.106716913_106716914insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT | NCBI36 |
| NG_007981.1:g.18344_18345insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374736.8:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT MANE Select | ENSP00000363868.3:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCAC... | |
| ENST00000678995.1:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | ENSP00000504612.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCAC... | |
| ENST00000374733.1:c.-115+13123_-115+13124insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | ENSP00000363865.1:n.-115+13123_-115+13124insAGAGTCGGTCGTTTTCC... | |
| ENST00000374736.7:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | ENSP00000363868.3:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCAC... | |
| ENST00000423487.6:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | ENSP00000416623.2:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCAC... | |
| NM_005502.3:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | NP_005493.2:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAA... | |
| XM_005251773.1:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_005251830.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_005251776.1:c.-115+13123_-115+13124insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_005251833.1:n.-115+13123_-115+13124insAGAGTCGGTCGTTTTCCACT... | |
| XM_011518339.1:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516641.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_011518341.1:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516643.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_011518342.1:c.-156+13123_-156+13124insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516644.1:n.-156+13123_-156+13124insAGAGTCGGTCGTTTTCCACT... | |
| XM_011518343.1:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516645.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_011518344.1:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516646.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XR_428585.2:n.999-3851_999-3850insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT | ||
| XR_428586.2:n.999-3851_999-3850insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT | ||
| XR_428587.2:n.20+2471_20+2472insAGTCATTTCATTGAGTTAACGAGTAGAGAGTTAGAAAAACCTCAAGATTTTCTCGCGAAAATTCAAACTTTATTTGGCAAATTGACAAGTAGATATTACTTTTGCAGTGGAAAACGACCGACTCT | ||
| XM_005251773.3:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_005251830.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_005251776.3:c.-115+13123_-115+13124insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_005251833.1:n.-115+13123_-115+13124insAGAGTCGGTCGTTTTCCACT... | |
| XM_011518339.3:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516641.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_011518341.3:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516643.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XM_011518342.3:c.-156+13123_-156+13124insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516644.1:n.-156+13123_-156+13124insAGAGTCGGTCGTTTTCCACT... | |
| XM_011518344.2:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | XP_011516646.1:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGC... | |
| XR_001746223.1:n.222-11041_222-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT | ||
| NM_005502.4:c.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAAAGTAATATCTACTTGTCAATTTGCCAAATAAAGTTTGAATTTTCGCGAGAAAATCTTGAGGTTTTTCTAACTCTCTACTCGTTAACTCAATGAAATGACT MANE Select | NP_005493.2:n.-92-11041_-92-11040insAGAGTCGGTCGTTTTCCACTGCAAA... |