SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.95171712_95171713insGCCAAAAAGTGAGTTTAAAAGACGATTTAAGAATAAAGAGTAAGGTCATTCTGCAATGAGCAGGAATCGTATCAGCAAGTAGGGAAGAATGAAAATCCAAGCACATCAGTTATGAAAAATA , CM000671.2:g.95171712_95171713insGCCAAAAAGTGAGTTTAAAAGACGATTTAAGAATAAAGAGTAAGGTCATTCTGCAATGAGCAGGAATCGTATCAGCAAGTAGGGAAGAATGAAAATCCAAGCACATCAGTTATGAAAAATA | GRCh38 |
| NC_000009.11:g.97933994_97933995insGCCAAAAAGTGAGTTTAAAAGACGATTTAAGAATAAAGAGTAAGGTCATTCTGCAATGAGCAGGAATCGTATCAGCAAGTAGGGAAGAATGAAAATCCAAGCACATCAGTTATGAAAAATA , CM000671.1:g.97933994_97933995insGCCAAAAAGTGAGTTTAAAAGACGATTTAAGAATAAAGAGTAAGGTCATTCTGCAATGAGCAGGAATCGTATCAGCAAGTAGGGAAGAATGAAAATCCAAGCACATCAGTTATGAAAAATA | GRCh37 |
| NC_000009.10:g.96973815_96973816insGCCAAAAAGTGAGTTTAAAAGACGATTTAAGAATAAAGAGTAAGGTCATTCTGCAATGAGCAGGAATCGTATCAGCAAGTAGGGAAGAATGAAAATCCAAGCACATCAGTTATGAAAAATA | NCBI36 |
| NG_011707.1:g.150997_150998insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC , LRG_497:g.150997_150998insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696261.1:n.847+324_847+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ||
| ENST00000289081.8:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC MANE Select | ENSP00000289081.3:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000375305.6:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000364454.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000490972.7:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000479931.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000636777.1:n.514+324_514+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ||
| ENST00000647778.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000498125.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000649334.1:c.601+324_601+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000497735.1:n.601+324_601+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000649701.1:n.171+324_171+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ||
| ENST00000289081.7:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000289081.3:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000375305.5:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000364454.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| ENST00000474949.1:n.813+324_813+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ||
| ENST00000490972.6:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | ENSP00000479931.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTT... | |
| NM_000136.2:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC , LRG_497t1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | NP_000127.2:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTT... | |
| NM_001243743.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | NP_001230672.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| NM_001243744.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | NP_001230673.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_006717001.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_006717064.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_006717002.2:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_006717065.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_006717004.2:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_006717067.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_011518365.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_011516667.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_011518366.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_011516668.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_011518367.1:c.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_011516669.1:n.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATT... | |
| XM_006717001.3:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_006717064.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_006717002.4:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_006717065.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_006717004.4:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_006717067.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_011518365.3:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_011516667.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_011518366.3:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_011516668.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| XM_011518367.2:c.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_011516669.1:n.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATT... | |
| XM_017014452.2:c.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_016869941.1:n.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATT... | |
| XM_017014453.1:c.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_016869942.1:n.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATT... | |
| XM_017014454.1:c.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_016869943.1:n.-1+324_-1+325insTATTTTTCATAACTGATGTGCTTGGATT... | |
| XM_024447451.1:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | XP_024303219.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| NM_000136.3:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC MANE Select | NP_000127.2:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTT... | |
| NM_001243743.2:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | NP_001230672.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... | |
| NM_001243744.2:c.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGATTTTCATTCTTCCCTACTTGCTGATACGATTCCTGCTCATTGCAGAATGACCTTACTCTTTATTCTTAAATCGTCTTTTAAACTCACTTTTTGGC | NP_001230673.1:n.456+324_456+325insTATTTTTCATAACTGATGTGCTTGGA... |