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_000002.12:g.238397658_238397878delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG , CM000664.2:g.238397658_238397878delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | GRCh38 |
| NC_000002.11:g.239306299_239306519delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG , CM000664.1:g.239306299_239306519delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | GRCh37 |
| NC_000002.10:g.238971038_238971258delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | NCBI36 |
| NG_053055.1:g.82170_82390delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373327.5:c.1889_1910+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| ENST00000373327.4:c.1889_1910+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| ENST00000391993.7:c.1691_1712+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| ENST00000483951.1:n.237_258+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| NM_001139490.1:c.1691_1712+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| NM_015650.3:c.1889_1910+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_006712414.1:c.1688_1709+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510944.1:c.1991_2012+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510945.1:c.1952_1973+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510946.1:c.1919_1940+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510947.1:c.1859_1880+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510948.1:c.1793_1814+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510950.1:c.857_878+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_006712414.2:c.1688_1709+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510944.2:c.1991_2012+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510945.2:c.1952_1973+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510946.2:c.1919_1940+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510947.2:c.1859_1880+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510948.2:c.1793_1814+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_011510950.2:c.857_878+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XM_017003789.1:c.1988_2009+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XR_001738696.1:n.1717_1738+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| XR_001738697.1:n.1714_1735+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG | ||
| NM_015650.4:c.1889_1910+199delinsAGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGGGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGGGGCCCTGCAGCAGGAGCAGAGGTGAGGGGTAGTAATGGGGAGGG |