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_000017.11:g.82924706_82924707insAATGCATGATTTTTATATACTTATAATAATTTTAAG , CM000679.2:g.82924706_82924707insAATGCATGATTTTTATATACTTATAATAATTTTAAG | GRCh38 |
| NC_000017.10:g.80882582_80882583insAATGCATGATTTTTATATACTTATAATAATTTTAAG , CM000679.1:g.80882582_80882583insAATGCATGATTTTTATATACTTATAATAATTTTAAG | GRCh37 |
| NC_000017.9:g.78475871_78475872insAATGCATGATTTTTATATACTTATAATAATTTTAAG | NCBI36 |
| NG_011721.1:g.177643_177644insAATGCATGATTTTTATATACTTATAATAATTTTAAG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000574886.2:n.1469-233_1469-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000576677.6:n.1390-233_1390-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000681983.1:n.2397-233_2397-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000682099.1:n.1158-233_1158-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000682213.1:c.*232-233_*232-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000508166.1:n.*232-233_*232-232insAATGCATGATTTTTATATACT... | |
| ENST00000682315.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507232.1:n.575-233_575-232insAATGCATGATTTTTATATACTTA... | |
| ENST00000682479.1:c.2351-233_2351-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000508214.1:n.2351-233_2351-232insAATGCATGATTTTTATATACT... | |
| ENST00000682610.1:n.1501-233_1501-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000682654.1:c.*232-233_*232-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507412.1:n.*232-233_*232-232insAATGCATGATTTTTATATACT... | |
| ENST00000682722.1:c.2210-233_2210-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000508364.1:n.2210-233_2210-232insAATGCATGATTTTTATATACT... | |
| ENST00000683041.1:c.*232-233_*232-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000506994.1:n.*232-233_*232-232insAATGCATGATTTTTATATACT... | |
| ENST00000683184.1:c.*1914-233_*1914-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507757.1:n.*1914-233_*1914-232insAATGCATGATTTTTATATA... | |
| ENST00000683282.1:c.2177-233_2177-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000506913.1:n.2177-233_2177-232insAATGCATGATTTTTATATACT... | |
| ENST00000683444.1:c.*1838-233_*1838-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507553.1:n.*1838-233_*1838-232insAATGCATGATTTTTATATA... | |
| ENST00000683584.1:n.1084-233_1084-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000683821.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507651.1:n.575-233_575-232insAATGCATGATTTTTATATACTTA... | |
| ENST00000683839.1:n.1715-233_1715-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000684000.1:c.2345-233_2345-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000506795.1:n.2345-233_2345-232insAATGCATGATTTTTATATACT... | |
| ENST00000684188.1:c.2072-233_2072-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507153.1:n.2072-233_2072-232insAATGCATGATTTTTATATACT... | |
| ENST00000684349.1:c.2447-233_2447-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000508067.1:n.2447-233_2447-232insAATGCATGATTTTTATATACT... | |
| ENST00000684361.1:c.2261-233_2261-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507364.1:n.2261-233_2261-232insAATGCATGATTTTTATATACT... | |
| ENST00000684408.1:c.1904-233_1904-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000506837.1:n.1904-233_1904-232insAATGCATGATTTTTATATACT... | |
| ENST00000684429.1:c.2189-233_2189-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507224.1:n.2189-233_2189-232insAATGCATGATTTTTATATACT... | |
| ENST00000684464.1:c.2354-233_2354-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000508333.1:n.2354-233_2354-232insAATGCATGATTTTTATATACT... | |
| ENST00000684544.1:c.2180-233_2180-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507337.1:n.2180-233_2180-232insAATGCATGATTTTTATATACT... | |
| ENST00000684559.1:n.1016-233_1016-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000684760.1:c.2528-233_2528-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507696.1:n.2528-233_2528-232insAATGCATGATTTTTATATACT... | |
| ENST00000684776.1:c.*744-233_*744-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000507861.1:n.*744-233_*744-232insAATGCATGATTTTTATATACT... | |
| ENST00000355528.9:c.2261-233_2261-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG MANE Select | ENSP00000347719.4:n.2261-233_2261-232insAATGCATGATTTTTATATACT... | |
| ENST00000355528.8:c.2261-233_2261-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000347719.4:n.2261-233_2261-232insAATGCATGATTTTTATATACT... | |
| ENST00000539345.6:c.2261-233_2261-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000440671.2:n.2261-233_2261-232insAATGCATGATTTTTATATACT... | |
| ENST00000571618.5:n.439-233_439-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000571796.5:n.919-233_919-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000574422.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000458599.1:n.575-233_575-232insAATGCATGATTTTTATATACTTA... | |
| ENST00000574818.5:n.319-233_319-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000574886.1:n.645-233_645-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| ENST00000574975.5:c.638-233_638-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000461680.1:n.638-233_638-232insAATGCATGATTTTTATATACTTA... | |
| ENST00000576760.5:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ENSP00000460949.1:n.575-233_575-232insAATGCATGATTTTTATATACTTA... | |
| NM_005993.4:c.2261-233_2261-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | NP_005984.3:n.2261-233_2261-232insAATGCATGATTTTTATATACTTATAAT... | |
| XM_005256396.3:c.2210-233_2210-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256453.1:n.2210-233_2210-232insAATGCATGATTTTTATATACTTAT... | |
| XM_005256399.3:c.977-233_977-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256456.1:n.977-233_977-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_005256400.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256457.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_005256401.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256458.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_005256402.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256459.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_005256403.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256460.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_005256404.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256461.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_006722290.2:c.2180-233_2180-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_006722353.1:n.2180-233_2180-232insAATGCATGATTTTTATATACTTAT... | |
| XM_006722291.2:c.965-233_965-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_006722354.1:n.965-233_965-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_006722292.2:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_006722355.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523589.1:c.1916-233_1916-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521891.1:n.1916-233_1916-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523590.1:c.1904-233_1904-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521892.1:n.1904-233_1904-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523591.1:c.1901-233_1901-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521893.1:n.1901-233_1901-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523592.1:c.1814-233_1814-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521894.1:n.1814-233_1814-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523593.1:c.1508-233_1508-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521895.1:n.1508-233_1508-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523594.1:c.989-233_989-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521896.1:n.989-233_989-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523595.1:c.956-233_956-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521897.1:n.956-233_956-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523596.1:c.2179-233_2179-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521898.1:n.2179-233_2179-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523597.1:c.722-233_722-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521899.1:n.722-233_722-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523598.1:c.719-233_719-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521900.1:n.719-233_719-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523599.1:c.713-233_713-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521901.1:n.713-233_713-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523600.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521902.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XR_430033.2:n.2369-233_2369-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| XM_005256396.4:c.2210-233_2210-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256453.1:n.2210-233_2210-232insAATGCATGATTTTTATATACTTAT... | |
| XM_005256399.5:c.977-233_977-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256456.1:n.977-233_977-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_005256404.4:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_005256461.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_006722291.4:c.965-233_965-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_006722354.1:n.965-233_965-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_006722292.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_006722355.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523589.2:c.1916-233_1916-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521891.1:n.1916-233_1916-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523591.2:c.1901-233_1901-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521893.1:n.1901-233_1901-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523593.2:c.1508-233_1508-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521895.1:n.1508-233_1508-232insAATGCATGATTTTTATATACTTAT... | |
| XM_011523594.2:c.989-233_989-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521896.1:n.989-233_989-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523595.3:c.956-233_956-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521897.1:n.956-233_956-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523597.2:c.722-233_722-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521899.1:n.722-233_722-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523599.2:c.713-233_713-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521901.1:n.713-233_713-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_011523600.3:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_011521902.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_017024987.1:c.2072-233_2072-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_016880476.1:n.2072-233_2072-232insAATGCATGATTTTTATATACTTAT... | |
| XM_017024989.1:c.623-233_623-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_016880478.1:n.623-233_623-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_017024990.2:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_016880479.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_024450899.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_024306667.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_024450900.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_024306668.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_024450901.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_024306669.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XM_024450902.1:c.575-233_575-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | XP_024306670.1:n.575-233_575-232insAATGCATGATTTTTATATACTTATAA... | |
| XR_001752597.1:n.2369-233_2369-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| XR_001752598.1:n.2369-233_2369-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| XR_001752599.1:n.2369-233_2369-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| XR_001752600.1:n.2287-233_2287-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG | ||
| NM_005993.5:c.2261-233_2261-232insAATGCATGATTTTTATATACTTATAATAATTTTAAG MANE Select | NP_005984.3:n.2261-233_2261-232insAATGCATGATTTTTATATACTTATAAT... |