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_000002.12:g.58160115C>T , CM000664.2:g.58160115C>T | GRCh38 |
| NC_000002.11:g.58387250C>T , CM000664.1:g.58387250C>T | GRCh37 |
| NC_000002.10:g.58240754C>T | NCBI36 |
| NG_007418.1:g.86265G>A , LRG_501:g.86265G>A | |
| NG_029717.2:g.257375C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1100G>A (FANCL) | ENSP00000385021.3:p.Cys367Tyr | |
| ENST00000403295.8:c.1001G>A (FANCL) | ENSP00000386097.3:p.Cys334Tyr | |
| ENST00000403676.6:c.*648G>A (FANCL) | ENSP00000384046.2:n.*648G>A | |
| ENST00000417361.2:c.*663G>A (FANCL) | ENSP00000389448.2:n.*663G>A | |
| ENST00000427708.7:c.1130G>A (FANCL) | ENSP00000400969.3:p.Cys377Tyr | |
| ENST00000446381.6:c.641G>A (FANCL) | ENSP00000390991.2:p.Cys214Tyr | |
| ENST00000449070.6:c.908G>A (FANCL) | ENSP00000401280.2:p.Cys303Tyr | |
| ENST00000470506.2:n.1599G>A (FANCL) | ||
| ENST00000696305.1:c.1028G>A (FANCL) | ENSP00000512543.1:p.Cys343Tyr | |
| ENST00000696306.1:c.*975G>A (FANCL) | ENSP00000512544.1:n.*975G>A | |
| ENST00000696307.1:c.1070G>A (FANCL) | ENSP00000512545.1:p.Cys357Tyr | |
| ENST00000696314.1:c.*138G>A (FANCL) | ENSP00000512552.1:n.*138G>A | |
| ENST00000696315.1:c.*648G>A (FANCL) | ENSP00000512553.1:n.*648G>A | |
| ENST00000696316.1:c.968G>A (FANCL) | ENSP00000512554.1:p.Cys323Tyr | |
| ENST00000696317.1:c.*58G>A (FANCL) | ENSP00000512555.1:n.*58G>A | |
| ENST00000696318.1:c.*138G>A (FANCL) | ENSP00000512556.1:n.*138G>A | |
| ENST00000696319.1:c.1043G>A (FANCL) | ENSP00000512557.1:p.Cys348Tyr | |
| ENST00000696320.1:n.2764G>A (FANCL) | ||
| ENST00000696324.1:c.*535G>A (FANCL) | ENSP00000512561.1:n.*535G>A | |
| ENST00000696325.1:n.4168G>A (FANCL) | ||
| ENST00000696326.1:c.1145G>A (FANCL) | ENSP00000512562.1:p.Cys382Tyr | |
| ENST00000696338.1:n.1199G>A (FANCL) | ||
| ENST00000696339.1:n.2657G>A (FANCL) | ||
| ENST00000696340.1:n.3311G>A (FANCL) | ||
| ENST00000696341.1:n.1593G>A (FANCL) | ||
| ENST00000696342.1:c.*2315G>A (FANCL) | ENSP00000512569.1:n.*2315G>A | |
| ENST00000696343.1:n.2944G>A (FANCL) | ||
| ENST00000696344.1:c.*799G>A (FANCL) | ENSP00000512570.1:n.*799G>A | |
| ENST00000696358.1:n.3758G>A (FANCL) | ||
| ENST00000696359.1:n.3435G>A (FANCL) | ||
| ENST00000696360.1:n.1870G>A (FANCL) | ||
| ENST00000696361.1:c.*1088G>A (FANCL) | ENSP00000512579.1:n.*1088G>A | |
| ENST00000696362.1:c.*535G>A (FANCL) | ENSP00000512580.1:n.*535G>A | |
| ENST00000696363.1:n.2862G>A (FANCL) | ||
| ENST00000696364.1:n.1478G>A (FANCL) | ||
| ENST00000696371.1:c.1076G>A (FANCL) | ENSP00000512586.1:p.Cys359Tyr | |
| ENST00000696372.1:n.2174G>A (FANCL) | ||
| ENST00000696373.1:c.*2315G>A (FANCL) | ENSP00000512587.1:n.*2315G>A | |
| ENST00000696374.1:c.*453G>A (FANCL) | ENSP00000512588.1:n.*453G>A | |
| ENST00000696375.1:n.8018G>A (FANCL) | ||
| ENST00000696376.1:n.6871G>A (FANCL) | ||
| ENST00000696378.1:c.*1103G>A (FANCL) | ENSP00000512589.1:n.*1103G>A | |
| ENST00000696394.1:n.4587G>A (FANCL) | ||
| ENST00000696395.1:n.4526G>A (FANCL) | ||
| ENST00000696396.1:n.2239G>A (FANCL) | ||
| ENST00000696397.1:n.3210G>A (FANCL) | ||
| ENST00000696398.1:c.*232G>A (FANCL) | ENSP00000512604.1:n.*232G>A | |
| ENST00000696399.1:n.2359G>A (FANCL) | ||
| ENST00000696400.1:c.*849G>A (FANCL) | ENSP00000512605.1:n.*849G>A | |
| ENST00000696409.1:c.*602G>A (FANCL) | ENSP00000512610.1:n.*602G>A | |
| ENST00000696410.1:c.*566G>A (FANCL) | ENSP00000512611.1:n.*566G>A | |
| ENST00000696411.1:n.790G>A (FANCL) | ||
| ENST00000696412.1:n.1584G>A (FANCL) | ||
| ENST00000696413.1:n.1087G>A (FANCL) | ||
| ENST00000696414.1:n.2131G>A (FANCL) | ||
| ENST00000696415.1:c.*58G>A (FANCL) | ENSP00000512612.1:n.*58G>A | |
| ENST00000696416.1:n.1093G>A (FANCL) | ||
| ENST00000696432.1:n.3544G>A (FANCL) | ||
| ENST00000696433.1:c.*138G>A (FANCL) | ENSP00000512627.1:n.*138G>A | |
| ENST00000696434.1:c.923G>A (FANCL) | ENSP00000512628.1:p.Cys308Tyr | |
| ENST00000696435.1:c.*232G>A (FANCL) | ENSP00000512629.1:n.*232G>A | |
| ENST00000696436.1:n.1039G>A (FANCL) | ||
| ENST00000696437.1:n.1502G>A (FANCL) | ||
| ENST00000696438.1:c.*918G>A (FANCL) | ENSP00000512630.1:n.*918G>A | |
| ENST00000696439.1:n.3134G>A (FANCL) | ||
| ENST00000696440.1:n.2121G>A (FANCL) | ||
| ENST00000696454.1:c.*436G>A (FANCL) | ENSP00000512641.1:n.*436G>A | |
| ENST00000696455.1:c.*138G>A (FANCL) | ENSP00000512642.1:n.*138G>A | |
| ENST00000696456.1:n.595G>A (FANCL) | ||
| ENST00000696457.1:c.*1856G>A (FANCL) | ENSP00000512643.1:n.*1856G>A | |
| ENST00000696458.1:c.*58G>A (FANCL) | ENSP00000512644.1:n.*58G>A | |
| ENST00000696459.1:c.*520G>A (FANCL) | ENSP00000512645.1:n.*520G>A | |
| ENST00000696460.1:n.1582G>A (FANCL) | ||
| ENST00000696467.1:c.*581G>A (FANCL) | ENSP00000512648.1:n.*581G>A | |
| ENST00000696468.1:c.*577G>A (FANCL) | ENSP00000512649.1:n.*577G>A | |
| ENST00000696469.1:c.*232G>A (FANCL) | ENSP00000512650.1:n.*232G>A | |
| ENST00000696470.1:n.3253G>A (FANCL) | ||
| ENST00000696471.1:n.755G>A (FANCL) | ||
| ENST00000696472.1:c.*138G>A (FANCL) | ENSP00000512651.1:n.*138G>A | |
| ENST00000696473.1:c.*768G>A (FANCL) | ENSP00000512652.1:n.*768G>A | |
| ENST00000696474.1:n.961G>A (FANCL) | ||
| ENST00000696475.1:n.2593G>A (FANCL) | ||
| ENST00000696492.1:c.*750G>A (FANCL) | ENSP00000512662.1:n.*750G>A | |
| ENST00000696493.1:c.*933G>A (FANCL) | ENSP00000512663.1:n.*933G>A | |
| ENST00000696494.1:n.1117G>A (FANCL) | ||
| ENST00000696495.1:c.*831G>A (FANCL) | ENSP00000512664.1:n.*831G>A | |
| ENST00000696496.1:n.1624G>A (FANCL) | ||
| ENST00000696497.1:n.4382G>A (FANCL) | ||
| ENST00000696498.1:n.1844G>A (FANCL) | ||
| ENST00000696499.1:c.*522G>A (FANCL) | ENSP00000512665.1:n.*522G>A | |
| ENST00000696508.1:c.*640G>A (FANCL) | ENSP00000512674.1:n.*640G>A | |
| ENST00000696509.1:c.*962G>A (FANCL) | ENSP00000512675.1:n.*962G>A | |
| ENST00000696510.1:c.557G>A (FANCL) | ENSP00000512676.1:p.Cys186Tyr | |
| ENST00000696527.1:c.*138G>A (FANCL) | ENSP00000512690.1:n.*138G>A | |
| ENST00000696528.1:c.*138G>A (FANCL) | ENSP00000512691.1:n.*138G>A | |
| ENST00000696529.1:n.948G>A (FANCL) | ||
| ENST00000696530.1:c.881G>A (FANCL) | ENSP00000512692.1:p.Cys294Tyr | |
| ENST00000696531.1:c.*617G>A (FANCL) | ENSP00000512693.1:n.*617G>A | |
| ENST00000696532.1:n.2232G>A (FANCL) | ||
| ENST00000696542.1:n.1023G>A (FANCL) | ||
| ENST00000696543.1:c.*138G>A (FANCL) | ENSP00000512703.1:n.*138G>A | |
| ENST00000696544.1:c.*138G>A (FANCL) | ENSP00000512704.1:n.*138G>A | |
| ENST00000696545.1:c.*753G>A (FANCL) | ENSP00000512705.1:n.*753G>A | |
| ENST00000696546.1:c.*864G>A (FANCL) | ENSP00000512706.1:n.*864G>A | |
| ENST00000696547.1:c.1073G>A (FANCL) | ENSP00000512707.1:p.Cys358Tyr | |
| ENST00000696548.1:c.*1289G>A (FANCL) | ENSP00000512708.1:n.*1289G>A | |
| ENST00000696564.1:c.*138G>A (FANCL) | ENSP00000512722.1:n.*138G>A | |
| ENST00000696565.1:c.*138G>A (FANCL) | ENSP00000512723.1:n.*138G>A | |
| ENST00000696566.1:n.3673G>A (FANCL) | ||
| ENST00000696567.1:c.980G>A (FANCL) | ENSP00000512724.1:p.Cys327Tyr | |
| ENST00000696568.1:n.511G>A (FANCL) | ||
| ENST00000696569.1:n.1194G>A (FANCL) | ||
| ENST00000696570.1:c.*407G>A (FANCL) | ENSP00000512725.1:n.*407G>A | |
| ENST00000696619.1:n.2641G>A (FANCL) | ||
| ENST00000696620.1:c.677G>A (FANCL) | ENSP00000512759.1:p.Cys226Tyr | |
| ENST00000696621.1:c.*232G>A (FANCL) | ENSP00000512760.1:n.*232G>A | |
| ENST00000696622.1:n.2816G>A (FANCL) | ||
| ENST00000696623.1:n.1051G>A (FANCL) | ||
| ENST00000696624.1:c.1016G>A (FANCL) | ENSP00000512761.1:p.Cys339Tyr | |
| ENST00000696625.1:c.*535G>A (FANCL) | ENSP00000512762.1:n.*535G>A | |
| ENST00000696634.1:c.798G>A (FANCL) | ENSP00000512770.1:n.798G>A | |
| ENST00000696635.1:c.1061G>A (FANCL) | ENSP00000512771.1:p.Cys354Tyr | |
| ENST00000696636.1:n.3537G>A (FANCL) | ||
| ENST00000696637.1:n.8158G>A (FANCL) | ||
| ENST00000696638.1:n.1100G>A (FANCL) | ||
| ENST00000696639.1:n.3163G>A (FANCL) | ||
| ENST00000233741.9:c.1085G>A (FANCL) MANE Select | ENSP00000233741.5:p.Cys362Tyr | |
| ENST00000233741.8:c.1085G>A (FANCL) | ENSP00000233741.4:p.Cys362Tyr | |
| ENST00000402135.7:c.1100G>A (FANCL) | ENSP00000385021.3:p.Cys367Tyr | |
| ENST00000403295.7:c.1001G>A (FANCL) | ENSP00000386097.3:p.Cys334Tyr | |
| ENST00000403676.5:c.734G>A (FANCL) | ENSP00000384046.1:p.Cys245Tyr | |
| NM_001114636.1:c.1100G>A , LRG_501t1:c.1100G>A (FANCL) | NP_001108108.1:p.Cys367Tyr | |
| NM_018062.3:c.1085G>A , LRG_501t2:c.1085G>A (FANCL) | NP_060532.2:p.Cys362Tyr | |
| XM_005264395.2:c.1085G>A (FANCL) | XP_005264452.1:p.Cys362Tyr | |
| XM_005264397.3:c.734G>A (FANCL) | XP_005264454.1:p.Cys245Tyr | |
| XM_011532939.1:c.1145G>A (FANCL) | XP_011531241.1:p.Cys382Tyr | |
| XM_011532940.1:c.1130G>A (FANCL) | XP_011531242.1:p.Cys377Tyr | |
| XM_011532941.1:c.1145G>A (FANCL) | XP_011531243.1:p.Cys382Tyr | |
| XM_011532942.1:c.1100G>A (FANCL) | XP_011531244.1:p.Cys367Tyr | |
| XM_011532943.1:c.1346G>A (FANCL) | XP_011531245.1:p.Cys449Tyr | |
| XM_011532944.1:c.794G>A (FANCL) | XP_011531246.1:p.Cys265Tyr | |
| XM_011532945.1:c.749G>A (FANCL) | XP_011531247.1:p.Cys250Tyr | |
| XR_939692.1:n.1084G>A (FANCL) | ||
| NR_156742.1:n.874G>A (FANCL) | ||
| XM_005264395.4:c.1085G>A (FANCL) | XP_005264452.1:p.Cys362Tyr | |
| XM_005264540.4:c.*422C>T (VRK2) | XP_005264597.1:n.*422C>T | |
| XM_006712090.4:c.*799C>T (VRK2) | XP_006712153.1:n.*799C>T | |
| XM_006712092.4:c.*422C>T (VRK2) | XP_006712155.1:n.*422C>T | |
| XM_006712093.4:c.*422C>T (VRK2) | XP_006712156.1:n.*422C>T | |
| XM_011532939.3:c.1145G>A (FANCL) | XP_011531241.1:p.Cys382Tyr | |
| XM_011532940.3:c.1130G>A (FANCL) | XP_011531242.1:p.Cys377Tyr | |
| XM_011532941.2:c.1145G>A (FANCL) | XP_011531243.1:p.Cys382Tyr | |
| XM_011532942.3:c.1100G>A (FANCL) | XP_011531244.1:p.Cys367Tyr | |
| XM_011532944.2:c.794G>A (FANCL) | XP_011531246.1:p.Cys265Tyr | |
| XM_011532945.2:c.749G>A (FANCL) | XP_011531247.1:p.Cys250Tyr | |
| XM_011533092.3:c.*422C>T (VRK2) | XP_011531394.1:n.*422C>T | |
| XM_017004414.2:c.1130G>A (FANCL) | XP_016859903.1:p.Cys377Tyr | |
| XM_017004416.1:c.734G>A (FANCL) | XP_016859905.1:p.Cys245Tyr | |
| XM_017004858.2:c.*799C>T (VRK2) | XP_016860347.1:n.*799C>T | |
| XM_017004859.2:c.*422C>T (VRK2) | XP_016860348.1:n.*422C>T | |
| XM_017004860.2:c.*422C>T (VRK2) | XP_016860349.1:n.*422C>T | |
| XM_017004861.2:c.*422C>T (VRK2) | XP_016860350.1:n.*422C>T | |
| XM_017004862.2:c.*422C>T (VRK2) | XP_016860351.1:n.*422C>T | |
| XM_017004863.2:c.*422C>T (VRK2) | XP_016860352.1:n.*422C>T | |
| XM_017004864.2:c.*799C>T (VRK2) | XP_016860353.1:n.*799C>T | |
| XM_017004865.1:c.*807C>T (VRK2) | XP_016860354.1:n.*807C>T | |
| XM_017004866.1:c.*807C>T (VRK2) | XP_016860355.1:n.*807C>T | |
| XR_001738802.2:n.1031G>A (FANCL) | ||
| XR_001738803.2:n.1016G>A (FANCL) | ||
| XR_002959309.1:n.1727G>A (FANCL) | ||
| XR_939692.2:n.1076G>A (FANCL) | ||
| NM_001374615.1:c.1130G>A (FANCL) | NP_001361544.1:p.Cys377Tyr | |
| NM_018062.4:c.1085G>A (FANCL) MANE Select | NP_060532.2:p.Cys362Tyr | |
| NR_164659.1:n.966G>A (FANCL) |