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_000002.12:g.112756885_112757214delinsACATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTTTAATGCTGATGGACCTTTTAGGTTTGACAGGCAAAACAACATGGTTGGTAACATCATTTTTGGGTCTAATAGT , CM000664.2:g.112756885_112757214delinsACATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTTTAATGCTGATGGACCTTTTAGGTTTGACAGGCAAAACAACATGGTTGGTAACATCATTTTTGGGTCTAATAGT | GRCh38 |
| NC_000002.11:g.113514462_113514791delinsACATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTTTAATGCTGATGGACCTTTTAGGTTTGACAGGCAAAACAACATGGTTGGTAACATCATTTTTGGGTCTAATAGT , CM000664.1:g.113514462_113514791delinsACATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTTTAATGCTGATGGACCTTTTAGGTTTGACAGGCAAAACAACATGGTTGGTAACATCATTTTTGGGTCTAATAGT | GRCh37 |
| NC_000002.10:g.113230933_113231262delinsACATTTACCATTTCCTTGATCTGTTAACTGCTGCTTTGTAGTTTTCAATTGCTCTATATTAAGTGACCCCACAGGTTTTCTTGACAGTTCTCCTGTTGTGGACGATCCAGCTTCACACTGTTGAAAACTCTTGCTAGAAGGCTTAGAGTATGGGTTAGAAGAAACACATTCTGAAGTCAGCCTTTTGCCCAGAAGTTTTGGTGGCTCCAACTTCGGCTTCTGGGACCCTGCAGTATTAGGTGGTCTGGGCTGGAGTTTAATGCTGATGGACCTTTTAGGTTTGACAGGCAAAACAACATGGTTGGTAACATCATTTTTGGGTCTAATAGT | NCBI36 |
| NG_041820.1:g.12464_12793delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302450.11:c.157_486delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT MANE Select | ENSP00000305204.6:p.Thr53= | |
| ENST00000302450.10:c.157_486delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | ENSP00000305204.6:p.Thr53= | |
| ENST00000435431.5:c.157_478+8delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | ||
| ENST00000481732.5:n.177-59_447delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | ||
| NM_001304361.1:c.-280-59_-10delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | ||
| NM_152515.4:c.157_486delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | NP_689728.3:p.Thr53= | |
| NR_130712.1:n.236_557+8delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | ||
| XM_011510666.1:c.-339_-10delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | XP_011508968.1:n.-339_-10delinsACTATTAGACCCAAAAATGATGTTACCAAC... | |
| XM_011510666.2:c.-339_-10delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | XP_011508968.1:n.-339_-10delinsACTATTAGACCCAAAAATGATGTTACCAAC... | |
| NM_152515.5:c.157_486delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT MANE Select | NP_689728.3:p.Thr53= | |
| NM_001304361.2:c.-280-59_-10delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT | ||
| NR_130712.2:n.168_489+8delinsACTATTAGACCCAAAAATGATGTTACCAACCATGTTGTTTTGCCTGTCAAACCTAAAAGGTCCATCAGCATTAAACTCCAGCCCAGACCACCTAATACTGCAGGGTCCCAGAAGCCGAAGTTGGAGCCACCAAAACTTCTGGGCAAAAGGCTGACTTCAGAATGTGTTTCTTCTAACCCATACTCTAAGCCTTCTAGCAAGAGTTTTCAACAGTGTGAAGCTGGATCGTCCACAACAGGAGAACTGTCAAGAAAACCTGTGGGGTCACTTAATATAGAGCAATTGAAAACTACAAAGCAGCAGTTAACAGATCAAGGAAATGGTAAATGT |