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.
Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.72346731_72346732insGGCCGGGCGCGGTGGCTCACGCCTGTAATCC , CM000677.2:g.72346731_72346732insGGCCGGGCGCGGTGGCTCACGCCTGTAATCC | GRCh38 |
| NC_000015.9:g.72639072_72639073insGGCCGGGCGCGGTGGCTCACGCCTGTAATCC , CM000677.1:g.72639072_72639073insGGCCGGGCGCGGTGGCTCACGCCTGTAATCC | GRCh37 |
| NC_000015.8:g.70426126_70426127insGGCCGGGCGCGGTGGCTCACGCCTGTAATCC | NCBI36 |
| NG_009017.1:g.34448_34449insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | |
| NG_009017.2:g.34448_34449insGGATTACAGGCGTGAGCCACCGCGCCCGGCC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567027.6:c.1074-407_1074-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000457521.2:n.1074-407_1074-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000682061.1:c.*809-22_*809-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508316.1:n.*809-22_*809-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000682064.1:n.467_468insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000682177.1:c.1190-22_1190-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507409.1:n.1190-22_1190-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000682235.1:n.464_465insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000682461.1:c.1253-22_1253-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507308.1:n.1253-22_1253-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000682653.1:n.1467-22_1467-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000682657.1:c.*484-407_*484-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507753.1:n.*484-407_*484-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000682721.1:c.*950-22_*950-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507535.1:n.*950-22_*950-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000682843.1:c.*972-407_*972-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508173.1:n.*972-407_*972-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000683003.1:c.*484-407_*484-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507576.1:n.*484-407_*484-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000683133.1:c.1331-22_1331-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508108.1:n.1331-22_1331-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000683243.1:c.*484-407_*484-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507042.1:n.*484-407_*484-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000683463.1:c.1074-22_1074-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507986.1:n.1074-22_1074-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000683548.1:n.1105-407_1105-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000683579.1:c.*1045-22_*1045-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000506867.1:n.*1045-22_*1045-21insGGATTACAGGCGTGAGCCACC... | |
| ENST00000683587.1:n.1178-407_1178-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000683681.1:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508110.1:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000683735.1:c.*1045-407_*1045-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508336.1:n.*1045-407_*1045-406insGGATTACAGGCGTGAGCCA... | |
| ENST00000683853.1:c.1074-22_1074-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000506834.1:n.1074-22_1074-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000683860.1:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507179.1:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000683884.1:c.1147-407_1147-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507004.1:n.1147-407_1147-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000684041.1:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508382.1:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000684125.1:c.1074-407_1074-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507320.1:n.1074-407_1074-406insGGATTACAGGCGTGAGCCACC... | |
| ENST00000684203.1:n.2912-22_2912-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000684231.1:c.*557-22_*557-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507748.1:n.*557-22_*557-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000684263.1:c.*87-22_*87-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000508369.1:n.*87-22_*87-21insGGATTACAGGCGTGAGCCACCGCGC... | |
| ENST00000684305.1:c.1595-22_1595-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000506819.1:n.1595-22_1595-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000684415.1:c.*14-22_*14-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507227.1:n.*14-22_*14-21insGGATTACAGGCGTGAGCCACCGCGC... | |
| ENST00000684520.1:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000506826.1:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000684602.1:c.*813-22_*813-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507996.1:n.*813-22_*813-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000684667.1:c.1478-22_1478-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000507003.1:n.1478-22_1478-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000268097.10:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC MANE Select | ENSP00000268097.6:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000268097.9:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000268097.5:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000379915.4:c.413-407_413-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000478716.1:n.413-407_413-406insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000563762.5:c.826-407_826-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000456346.1:n.826-407_826-406insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000566304.5:c.1180-22_1180-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000455114.1:n.1180-22_1180-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000566672.5:c.*557-22_*557-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000457037.1:n.*557-22_*557-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000567027.5:c.946-407_946-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000567159.5:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000456489.1:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000567411.5:c.*668-22_*668-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000455545.1:n.*668-22_*668-21insGGATTACAGGCGTGAGCCACCGC... | |
| ENST00000568777.5:n.6551-407_6551-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| ENST00000569410.5:c.1074-22_1074-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ENSP00000457125.1:n.1074-22_1074-21insGGATTACAGGCGTGAGCCACCGC... | |
| NM_000520.4:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | NP_000511.2:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGG... | |
| NM_000520.5:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | NP_000511.2:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGG... | |
| NM_001318825.1:c.1180-22_1180-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | NP_001305754.1:n.1180-22_1180-21insGGATTACAGGCGTGAGCCACCGCGCC... | |
| NR_134869.1:n.1575-407_1575-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| NM_000520.6:c.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC MANE Select | NP_000511.2:n.1147-22_1147-21insGGATTACAGGCGTGAGCCACCGCGCCCGG... | |
| NM_001318825.2:c.1180-22_1180-21insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | NP_001305754.1:n.1180-22_1180-21insGGATTACAGGCGTGAGCCACCGCGCC... | |
| NR_134869.2:n.1116-407_1116-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC | ||
| NR_134869.3:n.1116-407_1116-406insGGATTACAGGCGTGAGCCACCGCGCCCGGCC |