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 allow 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 allow us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.61955435_61955436insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT , CM000673.2:g.61955435_61955436insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | GRCh38 |
| NC_000011.9:g.61722907_61722908insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT , CM000673.1:g.61722907_61722908insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | GRCh37 |
| NC_000011.8:g.61479483_61479484insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NCBI36 |
| NG_009033.1:g.10552_10553insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378043.9:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT MANE Select | ENSP00000367282.4:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCC... | |
| ENST00000378043.8:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ENSP00000367282.4:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCC... | |
| ENST00000449131.6:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ENSP00000399709.2:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCA... | |
| ENST00000524877.5:n.397_398insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| ENST00000524926.5:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ENSP00000432681.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCC... | |
| ENST00000526988.1:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ENSP00000433195.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCA... | |
| ENST00000529265.5:n.170+234_170+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| ENST00000533521.5:n.589_590insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| ENST00000534553.5:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ENSP00000431189.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCA... | |
| NM_001139443.1:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001132915.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001300786.1:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001287715.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001300787.1:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001287716.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_004183.3:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_004174.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCAC... | |
| XM_005274210.2:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274267.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_005274215.2:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274272.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XM_005274216.2:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274273.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XM_005274218.3:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274275.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XM_005274219.2:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274276.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_005274221.2:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274278.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_011545229.1:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_011543531.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_011545230.1:c.154+234_154+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_011543532.1:n.154+234_154+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_011545231.1:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_011543533.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XM_011545232.1:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_011543534.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| NM_001363591.1:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001350520.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001363592.1:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001350521.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| NM_001363593.1:c.-929+48_-929+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001350522.1:n.-929+48_-929+49insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| NR_134580.1:n.827+234_827+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| XM_005274210.4:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274267.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_005274215.4:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274272.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XM_005274216.4:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274273.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XM_005274219.4:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274276.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_005274221.4:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_005274278.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_011545229.3:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_011543531.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_011545230.3:c.154+234_154+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_011543532.1:n.154+234_154+235insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| XM_017018230.2:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | XP_016873719.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| XR_001747952.2:n.745+234_745+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| XR_001747953.2:n.937+234_937+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| XR_001747954.2:n.937+234_937+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | ||
| XR_002957249.1:n.2302_2303insATAAAGAGGTGGAGAGAAAACTGTGTGATTCAGAACATCTGTTCGGAGTATTGGCTGTGGTGGGAGGGAATACCTGGACAAGCCA | ||
| NM_004183.4:c.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT MANE Select | NP_004174.1:n.247+234_247+235insTGGCTTGTCCAGGTATTCCCTCCCACCAC... | |
| NM_001139443.2:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001132915.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001300786.2:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001287715.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001300787.2:c.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001287716.1:n.67+234_67+235insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001363591.2:c.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001350520.1:n.-72+48_-72+49insTGGCTTGTCCAGGTATTCCCTCCCACCA... | |
| NM_001363593.2:c.-929+48_-929+49insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT | NP_001350522.1:n.-929+48_-929+49insTGGCTTGTCCAGGTATTCCCTCCCAC... | |
| NR_134580.2:n.360+234_360+235insTGGCTTGTCCAGGTATTCCCTCCCACCACAGCCAATACTCCGAACAGATGTTCTGAATCACACAGTTTTCTCTCCACCTCTTTAT |