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_000001.11:g.174892746_174892747insTGTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.2:g.174892746_174892747insTGTTTTTTTTTTTTTTTTTTTTTTTT | GRCh38 |
| NC_000001.10:g.174861883_174861884insTGTTTTTTTTTTTTTTTTTTTTTTTT , CM000663.1:g.174861883_174861884insTGTTTTTTTTTTTTTTTTTTTTTTTT | GRCh37 |
| NC_000001.9:g.173128506_173128507insTGTTTTTTTTTTTTTTTTTTTTTTTT | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681986.1:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | ENSP00000507884.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTT... | |
| ENST00000251507.8:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000251507.4:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTT... | |
| ENST00000325589.9:c.262-64711_262-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000318603.5:n.262-64711_262-64710insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000347255.6:c.322-64711_322-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000281844.5:n.322-64711_322-64710insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000367686.7:c.*181+15141_*181+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000489178.1:n.*181+15141_*181+15142insTGTTTTTTTTTTTTTTT... | |
| ENST00000367687.5:c.319-64711_319-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000356660.1:n.319-64711_319-64710insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000392064.6:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000375916.2:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000448158.1:n.286+44_286+45insTGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| ENST00000465412.5:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000435911.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000469553.6:c.*181+15141_*181+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000432734.1:n.*181+15141_*181+15142insTGTTTTTTTTTTTTTTT... | |
| ENST00000478442.5:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000434600.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000486220.5:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000432490.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000489615.5:c.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000420660.1:n.298-64711_298-64710insTGTTTTTTTTTTTTTTTTT... | |
| ENST00000529145.6:c.262-64711_262-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | ENSP00000489163.1:n.262-64711_262-64710insTGTTTTTTTTTTTTTTTTT... | |
| NM_001035230.2:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001030307.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001243763.1:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001230692.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001243765.1:c.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001230694.1:n.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_014857.4:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_055672.3:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTT... | |
| XM_005245680.1:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_005245737.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTT... | |
| XM_005245681.1:c.2230-64711_2230-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_005245738.1:n.2230-64711_2230-64710insTGTTTTTTTTTTTTTTTTTT... | |
| XM_006711693.1:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_006711756.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTT... | |
| XM_011510223.1:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_011508525.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTT... | |
| XR_922003.1:n.2761+15141_2761+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XR_922004.1:n.2761+15141_2761+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| NM_001330989.1:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001317918.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366446.1:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT MANE Select | NP_001353375.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTT... | |
| NM_001366447.1:c.2230-64711_2230-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353376.1:n.2230-64711_2230-64710insTGTTTTTTTTTTTTTTTTTT... | |
| NM_001366448.1:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353377.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTT... | |
| NM_001366450.1:c.262-64711_262-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353379.1:n.262-64711_262-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366451.1:c.-329+15141_-329+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353380.1:n.-329+15141_-329+15142insTGTTTTTTTTTTTTTTTTTT... | |
| NM_001366452.1:c.322-64711_322-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353381.1:n.322-64711_322-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366453.1:c.319-64711_319-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353382.1:n.319-64711_319-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366454.1:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353383.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366455.1:c.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353384.1:n.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366456.1:c.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353385.1:n.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001366457.1:c.-46+18240_-46+18241insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001353386.1:n.-46+18240_-46+18241insTGTTTTTTTTTTTTTTTTTTTT... | |
| NR_158982.1:n.2725+15141_2725+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | ||
| XM_005245681.2:c.2230-64711_2230-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_005245738.1:n.2230-64711_2230-64710insTGTTTTTTTTTTTTTTTTTT... | |
| XM_011510223.2:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_011508525.1:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTT... | |
| XM_017002996.1:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_016858485.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| XM_017002997.1:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_016858486.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| XM_024451295.1:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | XP_024307063.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001243765.2:c.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001230694.1:n.298-64711_298-64710insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001330989.2:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001317918.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001035230.3:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001030307.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_001243763.2:c.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_001230692.1:n.111+15141_111+15142insTGTTTTTTTTTTTTTTTTTTTT... | |
| NM_014857.5:c.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTTTTT | NP_055672.3:n.2341-64711_2341-64710insTGTTTTTTTTTTTTTTTTTTTTT... |