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_000003.12:g.128481845_128482345delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT , CM000665.2:g.128481845_128482345delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | GRCh38 |
| NC_000003.11:g.128200688_128201188delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT , CM000665.1:g.128200688_128201188delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | GRCh37 |
| NC_000003.10:g.129683378_129683878delinsCAGAATCGGCCCCAGATCCAGGGGCTCGAGGGGGACCAAGCCGGCTCAGCCTCAGGATGCCTGTGCTACTAGAGAGCCCTTCTCAGGGCCTCAGTTTCCCCATTTATGGAGTTAGAGCGCAGGGTAGTTGGGGGAGGTAGCTAATTCTCCTCTGTAGCTCTTGCAATCCCGTTGATTCTAACATCAGGCTTCTGAGAGTTCTTTATTCCAAAGTTCTGTGAGTCTTGACTTATTTCGTTCTCAAATTCTAAAATTCCATGGTTCTGAGATGCTTTGATTCCCATGTGAGATTTAGCCCTCCTTGACTGAGCTGGTGGGGACTGGGGGTGGAGCGAGGGTCAGGGAGGGGGGTCGAGGTGGGCGTGGGAGTCCAGCCTGCTGACGCTGCCTTGCCCTCCCAGTCGGCCGCCAGAAGAGCCGGCACCTGTTGTGCAAATTGTCAGACGACAACCACCACCTTATGGCGCCGAAACGCCAACGGGGACCCTGTCTGCAACGCCT | NCBI36 |
| NG_029334.1:g.15843_16343delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG , LRG_295:g.15843_16343delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000487848.6:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| ENST00000696466.1:c.1300-401_1399delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| ENST00000341105.7:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| ENST00000341105.6:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| ENST00000430265.6:c.1018-443_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| ENST00000487848.5:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| NM_001145661.1:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG , LRG_295t1:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| NM_001145662.1:c.1018-443_1075delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| NM_032638.4:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG , LRG_295t2:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| NM_001145661.2:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG | ||
| NM_032638.5:c.1018-401_1117delinsAGGCGTTGCAGACAGGGTCCCCGTTGGCGTTTCGGCGCCATAAGGTGGTGGTTGTCGTCTGACAATTTGCACAACAGGTGCCGGCTCTTCTGGCGGCCGACTGGGAGGGCAAGGCAGCGTCAGCAGGCTGGACTCCCACGCCCACCTCGACCCCCCTCCCTGACCCTCGCTCCACCCCCAGTCCCCACCAGCTCAGTCAAGGAGGGCTAAATCTCACATGGGAATCAAAGCATCTCAGAACCATGGAATTTTAGAATTTGAGAACGAAATAAGTCAAGACTCACAGAACTTTGGAATAAAGAACTCTCAGAAGCCTGATGTTAGAATCAACGGGATTGCAAGAGCTACAGAGGAGAATTAGCTACCTCCCCCAACTACCCTGCGCTCTAACTCCATAAATGGGGAAACTGAGGCCCTGAGAAGGGCTCTCTAGTAGCACAGGCATCCTGAGGCTGAGCCGGCTTGGTCCCCCTCGAGCCCCTGGATCTGGGGCCGATTCTG |