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_000008.11:g.130317811_130317812insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC , CM000670.2:g.130317811_130317812insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC | GRCh38 |
| NC_000008.10:g.131330057_131330058insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC , CM000670.1:g.131330057_131330058insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC | GRCh37 |
| NC_000008.9:g.131399239_131399240insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC | NCBI36 |
| NG_030354.1:g.130850_130851insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518721.6:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG MANE Select | ENSP00000429900.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACA... | |
| ENST00000357668.2:c.165+40206_165+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ENSP00000350297.2:n.165+40206_165+40207insGCTAGCGTATGCCAGTACA... | |
| ENST00000518721.5:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ENSP00000429900.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACA... | |
| ENST00000520927.5:c.*168+40206_*168+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ENSP00000428629.1:n.*168+40206_*168+40207insGCTAGCGTATGCCAGTA... | |
| ENST00000521075.5:c.*168+40206_*168+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ENSP00000428463.1:n.*168+40206_*168+40207insGCTAGCGTATGCCAGTA... | |
| ENST00000521426.5:c.165+40206_165+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ENSP00000430917.1:n.165+40206_165+40207insGCTAGCGTATGCCAGTACA... | |
| ENST00000524299.1:c.*168+40206_*168+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ENSP00000429614.1:n.*168+40206_*168+40207insGCTAGCGTATGCCAGTA... | |
| ENST00000524367.5:n.96+23031_96+23032insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | ||
| NM_001247996.1:c.165+40206_165+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001234925.1:n.165+40206_165+40207insGCTAGCGTATGCCAGTACACGA... | |
| NM_018482.3:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_060952.2:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCT... | |
| XM_005250925.1:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_005250982.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_006716563.2:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716626.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_006716564.1:c.165+40206_165+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716627.1:n.165+40206_165+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_006716565.2:c.-120-27673_-120-27672insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716628.1:n.-120-27673_-120-27672insGCTAGCGTATGCCAGTACAC... | |
| XM_006716566.1:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716629.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_006716567.2:c.10-80817_10-80816insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716630.1:n.10-80817_10-80816insGCTAGCGTATGCCAGTACACGATC... | |
| XM_011517052.1:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_011515354.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_011517053.1:c.165+40206_165+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_011515355.1:n.165+40206_165+40207insGCTAGCGTATGCCAGTACACGA... | |
| XR_928643.1:n.3040_3041insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC | ||
| XR_928644.1:n.2855_2856insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC | ||
| XR_928645.1:n.2883_2884insGATATTCAAGGCCGTACTTGCTTGATCGTAGATGATATGATCGATACGGCAAATACTTTGTGTAAAGCGGCTGTAGCCCTGAAAGAGCGCGGTGCAGATCGTGTACTGGCATACGCTAGCC | ||
| NM_001362924.1:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001349853.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| NM_001362925.1:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001349854.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| NM_001362926.1:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001349855.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_006716563.3:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716626.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_006716565.3:c.-120-27673_-120-27672insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_006716628.1:n.-120-27673_-120-27672insGCTAGCGTATGCCAGTACAC... | |
| XM_011517052.2:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_011515354.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| XM_017013467.2:c.51+39871_51+39872insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_016868956.1:n.51+39871_51+39872insGCTAGCGTATGCCAGTACACGATC... | |
| XM_017013468.1:c.10-80817_10-80816insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | XP_016868957.1:n.10-80817_10-80816insGCTAGCGTATGCCAGTACACGATC... | |
| NM_018482.4:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG MANE Select | NP_060952.2:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCT... | |
| NM_001362925.2:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001349854.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| NM_001362926.2:c.186+40206_186+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001349855.1:n.186+40206_186+40207insGCTAGCGTATGCCAGTACACGA... | |
| NM_001247996.2:c.165+40206_165+40207insGCTAGCGTATGCCAGTACACGATCTGCACCGCGCTCTTTCAGGGCTACAGCCGCTTTACACAAAGTATTTGCCGTATCGATCATATCATCTACGATCAAGCAAGTACGGCCTTGAATATCG | NP_001234925.1:n.165+40206_165+40207insGCTAGCGTATGCCAGTACACGA... |