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_000011.10:g.17428717G= , CM000673.2:g.17428717G= | GRCh38 |
| NC_000011.9:g.17450264G= , CM000673.1:g.17450264G= | GRCh37 |
| NC_000011.8:g.17406840G= | NCBI36 |
| NG_008867.1:g.53186C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.1455-15C= | ||
| ENST00000642611.2:n.1884-47C= | ||
| ENST00000682051.1:n.1831-47C= | ||
| ENST00000682110.1:n.1884-47C= | ||
| ENST00000682140.1:c.1815-47C= | ENSP00000507829.1:n.1815-47C= | |
| ENST00000682185.1:n.3123-47C= | ||
| ENST00000682204.1:c.1669-47C= | ENSP00000507094.1:n.1669-47C= | |
| ENST00000682215.1:n.1884-47C= | ||
| ENST00000682288.1:c.*214-15C= | ENSP00000507506.1:n.*214-15C= | |
| ENST00000682442.1:n.2005-47C= | ||
| ENST00000682528.1:n.1884-47C= | ||
| ENST00000682673.1:n.1831-47C= | ||
| ENST00000682805.1:n.1884-47C= | ||
| ENST00000682965.1:c.1815-47C= | ENSP00000508229.1:n.1815-47C= | |
| ENST00000683093.1:n.1986-47C= | ||
| ENST00000683136.1:c.1815-47C= | ENSP00000507768.1:n.1815-47C= | |
| ENST00000683153.1:n.1884-47C= | ||
| ENST00000683253.1:n.2900-47C= | ||
| ENST00000683365.1:n.1986-47C= | ||
| ENST00000683377.1:n.1884-47C= | ||
| ENST00000683456.1:c.1815-47C= | ENSP00000508318.1:n.1815-47C= | |
| ENST00000683522.1:n.1884-47C= | ||
| ENST00000683562.1:c.1818-15C= | ENSP00000508265.1:n.1818-15C= | |
| ENST00000683693.1:n.1884-47C= | ||
| ENST00000683725.1:c.1818-47C= | ENSP00000507496.1:n.1818-47C= | |
| ENST00000684010.1:n.1884-47C= | ||
| ENST00000684157.1:n.1884-47C= | ||
| ENST00000684253.1:n.1790-47C= | ||
| ENST00000684288.1:c.1818-15C= | ENSP00000507143.1:n.1818-15C= | |
| ENST00000684313.1:n.1724-11755C= | ||
| ENST00000684332.1:n.1957-47C= | ||
| ENST00000684371.1:n.1831-47C= | ||
| ENST00000684404.1:n.1884-47C= | ||
| ENST00000684442.1:n.1884-47C= | ||
| ENST00000684555.1:c.1672-15C= | ENSP00000507705.1:n.1672-15C= | |
| ENST00000684571.1:c.1659-47C= | ENSP00000506935.1:n.1659-47C= | |
| ENST00000684593.1:c.*1523-47C= | ENSP00000507005.1:n.*1523-47C= | |
| ENST00000684711.1:c.*214-47C= | ENSP00000506841.1:n.*214-47C= | |
| ENST00000302539.9:c.1818-47C= | ENSP00000303960.4:n.1818-47C= | |
| ENST00000389817.8:c.1818-47C= MANE Select | ENSP00000374467.4:n.1818-47C= | |
| ENST00000532728.6:c.1399-47C= | ||
| ENST00000642271.1:c.1815-47C= | ENSP00000493749.1:n.1815-47C= | |
| ENST00000642611.1:n.1769-47C= | ||
| ENST00000642902.1:c.1653-47C= | ||
| ENST00000643260.1:c.1815-47C= | ENSP00000494450.1:n.1815-47C= | |
| ENST00000643562.1:c.1818-47C= | ENSP00000496124.1:n.1818-47C= | |
| ENST00000644447.1:c.171-47C= | ENSP00000496282.1:n.171-47C= | |
| ENST00000644472.1:c.*179-47C= | ENSP00000495378.1:n.*179-47C= | |
| ENST00000644484.1:c.1669-15C= | ENSP00000493558.1:n.1669-15C= | |
| ENST00000644542.1:c.*1520-47C= | ENSP00000495532.1:n.*1520-47C= | |
| ENST00000644649.1:c.988-47C= | ||
| ENST00000644675.1:c.1815-15C= | ENSP00000494567.1:n.1815-15C= | |
| ENST00000644757.1:c.*88-15C= | ENSP00000495085.1:n.*88-15C= | |
| ENST00000644772.1:c.1818-47C= | ENSP00000494321.1:n.1818-47C= | |
| ENST00000645076.1:c.1100-77C= | ||
| ENST00000645744.1:c.*179-47C= | ENSP00000494564.1:n.*179-47C= | |
| ENST00000645760.1:c.2093-47C= | ||
| ENST00000645884.1:c.1815-47C= | ENSP00000495516.1:n.1815-47C= | |
| ENST00000646003.1:c.1669-47C= | ENSP00000495259.1:n.1669-47C= | |
| ENST00000646207.1:c.*179-47C= | ENSP00000495025.1:n.*179-47C= | |
| ENST00000646276.1:c.*88-47C= | ENSP00000496070.1:n.*88-47C= | |
| ENST00000646592.1:c.882-47C= | ||
| ENST00000646902.1:c.1815-47C= | ENSP00000494101.1:n.1815-47C= | |
| ENST00000646993.1:c.*214-47C= | ENSP00000493720.1:n.*214-47C= | |
| ENST00000647013.1:c.1789-15C= | ENSP00000496741.1:n.1789-15C= | |
| ENST00000647015.1:c.1672-312C= | ENSP00000495389.1:n.1672-312C= | |
| ENST00000647086.1:c.*1498C= | ENSP00000493677.1:n.*1498C= | |
| ENST00000647158.1:c.1669-47C= | ENSP00000495744.1:n.1669-47C= | |
| ENST00000302539.8:c.1818-47C= | ENSP00000303960.4:n.1818-47C= | |
| ENST00000389817.7:c.1818-47C= | ENSP00000374467.3:n.1818-47C= | |
| ENST00000527905.5:c.1818-77C= | ENSP00000431653.1:n.1818-77C= | |
| NM_000352.4:c.1818-47C= | NP_000343.2:n.1818-47C= | |
| NM_001287174.1:c.1818-47C= | NP_001274103.1:n.1818-47C= | |
| XM_011520331.1:c.1815-47C= | XP_011518633.1:n.1815-47C= | |
| XM_011520332.1:c.1818-47C= | XP_011518634.1:n.1818-47C= | |
| XM_011520333.1:c.315-47C= | XP_011518635.1:n.315-47C= | |
| XM_011520334.1:c.1818-47C= | XP_011518636.1:n.1818-47C= | |
| XR_930890.1:n.1881-47C= | ||
| XR_930891.1:n.1881-47C= | ||
| XR_930892.1:n.1881-47C= | ||
| XR_930893.1:n.1881-47C= | ||
| NM_001351295.1:c.1818-47C= | NP_001338224.1:n.1818-47C= | |
| NM_001351296.1:c.1815-47C= | NP_001338225.1:n.1815-47C= | |
| NM_001351297.1:c.1815-47C= | NP_001338226.1:n.1815-47C= | |
| NR_147094.1:n.1884-47C= | ||
| XM_017018197.2:c.1818-47C= | XP_016873686.1:n.1818-47C= | |
| XM_017018199.1:c.1815-47C= | XP_016873688.1:n.1815-47C= | |
| XM_017018201.2:c.1818-47C= | XP_016873690.1:n.1818-47C= | |
| XM_017018202.1:c.315-47C= | XP_016873691.1:n.315-47C= | |
| XM_017018204.1:c.-226-47C= | XP_016873693.1:n.-226-47C= | |
| XM_024448668.1:c.183-47C= | XP_024304436.1:n.183-47C= | |
| XR_001747945.2:n.1890-47C= | ||
| XR_001747946.2:n.1890-47C= | ||
| XR_002957189.1:n.1890-47C= | ||
| NM_000352.6:c.1818-47C= MANE Select | NP_000343.2:n.1818-47C= | |
| NM_001287174.2:c.1818-47C= | NP_001274103.1:n.1818-47C= | |
| NM_001351295.2:c.1818-47C= | NP_001338224.1:n.1818-47C= | |
| NM_001351296.2:c.1815-47C= | NP_001338225.1:n.1815-47C= | |
| NM_001351297.2:c.1815-47C= | NP_001338226.1:n.1815-47C= | |
| NR_147094.2:n.1884-47C= | ||
| NM_001287174.3:c.1818-47C= | NP_001274103.1:n.1818-47C= |