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.17397058G= , CM000673.2:g.17397058G= | GRCh38 |
| NC_000011.9:g.17418605G= , CM000673.1:g.17418605G= | GRCh37 |
| NC_000011.8:g.17375181G= | NCBI36 |
| NG_008867.1:g.84845C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000524561.2:n.3578C= | ||
| ENST00000528374.2:c.568C= | ||
| ENST00000529967.6:n.2328-12C= | ||
| ENST00000532220.2:n.2225C= | ||
| ENST00000642611.2:n.4192C= | ||
| ENST00000644057.2:n.432-12C= | ||
| ENST00000645004.2:n.1488-12C= | ||
| ENST00000682051.1:n.4139C= | ||
| ENST00000682110.1:n.4192C= | ||
| ENST00000682140.1:c.3985+135C= | ENSP00000507829.1:n.3985+135C= | |
| ENST00000682185.1:n.5294-12C= | ||
| ENST00000682204.1:c.*2127-12C= | ENSP00000507094.1:n.*2127-12C= | |
| ENST00000682215.1:n.4559C= | ||
| ENST00000682288.1:c.*2420-12C= | ENSP00000507506.1:n.*2420-12C= | |
| ENST00000682442.1:n.4412C= | ||
| ENST00000682528.1:n.4269C= | ||
| ENST00000682673.1:n.4136C= | ||
| ENST00000682805.1:n.4559C= | ||
| ENST00000682965.1:c.*411-12C= | ENSP00000508229.1:n.*411-12C= | |
| ENST00000683093.1:n.4291C= | ||
| ENST00000683136.1:c.3872-12C= | ENSP00000507768.1:n.3872-12C= | |
| ENST00000683153.1:n.4234C= | ||
| ENST00000683365.1:n.4294C= | ||
| ENST00000683377.1:n.4192C= | ||
| ENST00000683456.1:c.*1126-12C= | ENSP00000508318.1:n.*1126-12C= | |
| ENST00000683522.1:n.4192C= | ||
| ENST00000683562.1:c.*2158-12C= | ENSP00000508265.1:n.*2158-12C= | |
| ENST00000683693.1:n.4639C= | ||
| ENST00000683725.1:c.3989-12C= | ENSP00000507496.1:n.3989-12C= | |
| ENST00000684010.1:n.4187C= | ||
| ENST00000684157.1:n.4192C= | ||
| ENST00000684253.1:n.4095C= | ||
| ENST00000684288.1:c.*2161-12C= | ENSP00000507143.1:n.*2161-12C= | |
| ENST00000684313.1:n.3624C= | ||
| ENST00000684332.1:n.4265C= | ||
| ENST00000684371.1:n.4298C= | ||
| ENST00000684404.1:n.4235C= | ||
| ENST00000684442.1:n.4428-12C= | ||
| ENST00000684555.1:c.*2201-12C= | ENSP00000507705.1:n.*2201-12C= | |
| ENST00000684571.1:c.3830-12C= | ENSP00000506935.1:n.3830-12C= | |
| ENST00000684593.1:c.*3694-12C= | ENSP00000507005.1:n.*3694-12C= | |
| ENST00000684711.1:c.*2385-12C= | ENSP00000506841.1:n.*2385-12C= | |
| ENST00000302539.9:c.3992-12C= | ENSP00000303960.4:n.3992-12C= | |
| ENST00000389817.8:c.3989-12C= MANE Select | ENSP00000374467.4:n.3989-12C= | |
| ENST00000642271.1:c.3986-12C= | ENSP00000493749.1:n.3986-12C= | |
| ENST00000642579.1:c.2073-42C= | ||
| ENST00000642611.1:n.4077C= | ||
| ENST00000642902.1:c.3771-12C= | ||
| ENST00000643260.1:c.3989-12C= | ENSP00000494450.1:n.3989-12C= | |
| ENST00000643562.1:c.*2099C= | ENSP00000496124.1:n.*2099C= | |
| ENST00000643925.1:c.2617C= | ||
| ENST00000644057.1:n.54C= | ||
| ENST00000644484.1:c.*2378C= | ENSP00000493558.1:n.*2378C= | |
| ENST00000644675.1:c.*2161-12C= | ENSP00000494567.1:n.*2161-12C= | |
| ENST00000644757.1:c.*2408C= | ENSP00000495085.1:n.*2408C= | |
| ENST00000644772.1:c.4055-12C= | ENSP00000494321.1:n.4055-12C= | |
| ENST00000645004.1:n.1632C= | ||
| ENST00000645076.1:c.3188-12C= | ||
| ENST00000645417.1:c.1177-12C= | ||
| ENST00000645744.1:c.*2757C= | ENSP00000494564.1:n.*2757C= | |
| ENST00000645760.1:c.4398C= | ||
| ENST00000645884.1:c.*1260C= | ENSP00000495516.1:n.*1260C= | |
| ENST00000646003.1:c.*2079C= | ENSP00000495259.1:n.*2079C= | |
| ENST00000646207.1:c.*2826-12C= | ENSP00000495025.1:n.*2826-12C= | |
| ENST00000646276.1:c.*2396C= | ENSP00000496070.1:n.*2396C= | |
| ENST00000646592.1:c.3295-12C= | ||
| ENST00000646902.1:c.3986-42C= | ENSP00000494101.1:n.3986-42C= | |
| ENST00000646993.1:c.*2519C= | ENSP00000493720.1:n.*2519C= | |
| ENST00000647013.1:c.3995-12C= | ENSP00000496741.1:n.3995-12C= | |
| ENST00000647015.1:c.3740-12C= | ENSP00000495389.1:n.3740-12C= | |
| ENST00000647086.1:c.*3605-42C= | ENSP00000493677.1:n.*3605-42C= | |
| ENST00000647158.1:c.*2264C= | ENSP00000495744.1:n.*2264C= | |
| ENST00000302539.8:c.3992-12C= | ENSP00000303960.4:n.3992-12C= | |
| ENST00000389817.7:c.3989-12C= | ENSP00000374467.3:n.3989-12C= | |
| ENST00000527905.5:c.*999C= | ENSP00000431653.1:n.*999C= | |
| ENST00000528374.1:c.459C= | ||
| ENST00000531137.1:n.542C= | ||
| ENST00000531891.1:c.357-42C= | ||
| ENST00000532220.1:n.451C= | ||
| NM_000352.4:c.3989-12C= | NP_000343.2:n.3989-12C= | |
| NM_001287174.1:c.3992-12C= | NP_001274103.1:n.3992-12C= | |
| XM_011520331.1:c.3989-12C= | XP_011518633.1:n.3989-12C= | |
| XM_011520332.1:c.3992-12C= | XP_011518634.1:n.3992-12C= | |
| XM_011520333.1:c.2489-12C= | XP_011518635.1:n.2489-12C= | |
| XR_930890.1:n.4055-12C= | ||
| NM_001351295.1:c.4055-12C= | NP_001338224.1:n.4055-12C= | |
| NM_001351296.1:c.3989-12C= | NP_001338225.1:n.3989-12C= | |
| NM_001351297.1:c.3986-12C= | NP_001338226.1:n.3986-12C= | |
| NR_147094.1:n.4272C= | ||
| XM_017018197.2:c.4058-12C= | XP_016873686.1:n.4058-12C= | |
| XM_017018199.1:c.4055-12C= | XP_016873688.1:n.4055-12C= | |
| XM_017018201.2:c.4058-12C= | XP_016873690.1:n.4058-12C= | |
| XM_017018202.1:c.2555-12C= | XP_016873691.1:n.2555-12C= | |
| XM_017018204.1:c.1946-12C= | XP_016873693.1:n.1946-12C= | |
| XM_024448668.1:c.2357-12C= | XP_024304436.1:n.2357-12C= | |
| XR_001747945.2:n.4130-12C= | ||
| XR_001747946.2:n.4061-12C= | ||
| XR_002957189.1:n.4714C= | ||
| NM_000352.6:c.3989-12C= MANE Select | NP_000343.2:n.3989-12C= | |
| NM_001287174.2:c.3992-12C= | NP_001274103.1:n.3992-12C= | |
| NM_001351295.2:c.4055-12C= | NP_001338224.1:n.4055-12C= | |
| NM_001351296.2:c.3989-12C= | NP_001338225.1:n.3989-12C= | |
| NM_001351297.2:c.3986-12C= | NP_001338226.1:n.3986-12C= | |
| NR_147094.2:n.4272C= | ||
| NM_001287174.3:c.3992-12C= | NP_001274103.1:n.3992-12C= |