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_000020.11:g.44413913_44413914insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC , CM000682.2:g.44413913_44413914insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | GRCh38 |
| NC_000020.10:g.43042553_43042554insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC , CM000682.1:g.43042553_43042554insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | GRCh37 |
| NC_000020.9:g.42475967_42475968insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NCBI36 |
| NG_009818.1:g.63113_63114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC , LRG_483:g.63113_63114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC MANE Select | ENSP00000315180.4:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000316099.10:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000312987.3:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000619550.5:c.466+113_466+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ||
| ENST00000683148.1:n.468+113_468+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ||
| ENST00000683657.1:n.1616+113_1616+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ||
| ENST00000316099.9:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000312987.3:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000316099.8:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000312987.3:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000316673.8:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000315180.4:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000372920.1:c.*259+113_*259+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000362011.1:n.*259+113_*259+114insGGGGATTCCTGAACAAGAGGA... | |
| ENST00000415691.2:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000412111.1:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000443598.6:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000410911.2:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000457232.5:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000396216.1:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000609795.5:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000476609.1:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATC... | |
| ENST00000619550.4:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | ENSP00000481331.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATC... | |
| NM_000457.4:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC , LRG_483t2:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_000448.3:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_001030003.2:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001025174.1:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001030004.2:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001025175.1:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001258355.1:c.471+113_471+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001245284.1:n.471+113_471+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001287182.1:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001274111.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001287183.1:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC , LRG_483t3:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001274112.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001287184.1:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001274113.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_175914.4:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC , LRG_483t1:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_787110.2:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_178849.2:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_849180.1:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_178850.2:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_849181.1:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| XM_005260407.2:c.609+113_609+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | XP_005260464.1:n.609+113_609+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| XM_011528797.1:c.540+113_540+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | XP_011527099.1:n.540+113_540+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| XM_011528798.1:c.540+113_540+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | XP_011527100.1:n.540+113_540+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| XM_005260407.4:c.609+113_609+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | XP_005260464.1:n.609+113_609+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001030003.3:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001025174.1:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001030004.3:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001025175.1:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001258355.2:c.471+113_471+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001245284.1:n.471+113_471+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001287182.2:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001274111.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_001287184.2:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001274113.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_178849.3:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_849180.1:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_178850.3:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_849181.1:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_000457.5:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_000448.3:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_000457.6:c.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_000448.3:n.492+113_492+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... | |
| NM_001287183.2:c.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC | NP_001274112.1:n.417+113_417+114insGGGGATTCCTGAACAAGAGGATCTGG... | |
| NM_175914.5:c.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGGCTCCAACTGCCTTGATGGTTTTGTCCATCAGCAGGAGCTGCATGTACTCCAGACTAAC MANE Select | NP_787110.2:n.426+113_426+114insGGGGATTCCTGAACAAGAGGATCTGGGGG... |