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.58160140T= , CM000664.2:g.58160140T= | GRCh38 |
| NC_000002.11:g.58387275T= , CM000664.1:g.58387275T= | GRCh37 |
| NC_000002.10:g.58240779T= | NCBI36 |
| NG_007418.1:g.86240A= , LRG_501:g.86240A= | |
| NG_029717.2:g.257400T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1075A= (FANCL) | ENSP00000385021.3:p.Ile359= | |
| ENST00000403295.8:c.976A= (FANCL) | ENSP00000386097.3:p.Ile326= | |
| ENST00000403676.6:c.*623A= (FANCL) | ENSP00000384046.2:n.*623A= | |
| ENST00000417361.2:c.*638A= (FANCL) | ENSP00000389448.2:n.*638A= | |
| ENST00000427708.7:c.1105A= (FANCL) | ENSP00000400969.3:p.Ile369= | |
| ENST00000446381.6:c.616A= (FANCL) | ENSP00000390991.2:p.Ile206= | |
| ENST00000449070.6:c.883A= (FANCL) | ENSP00000401280.2:p.Ile295= | |
| ENST00000470506.2:n.1574A= (FANCL) | ||
| ENST00000696305.1:c.1003A= (FANCL) | ENSP00000512543.1:p.Ile335= | |
| ENST00000696306.1:c.*950A= (FANCL) | ENSP00000512544.1:n.*950A= | |
| ENST00000696307.1:c.1045A= (FANCL) | ENSP00000512545.1:p.Ile349= | |
| ENST00000696314.1:c.*113A= (FANCL) | ENSP00000512552.1:n.*113A= | |
| ENST00000696315.1:c.*623A= (FANCL) | ENSP00000512553.1:n.*623A= | |
| ENST00000696316.1:c.943A= (FANCL) | ENSP00000512554.1:p.Ile315= | |
| ENST00000696317.1:c.*33A= (FANCL) | ENSP00000512555.1:n.*33A= | |
| ENST00000696318.1:c.*113A= (FANCL) | ENSP00000512556.1:n.*113A= | |
| ENST00000696319.1:c.1018A= (FANCL) | ENSP00000512557.1:p.Ile340= | |
| ENST00000696320.1:n.2739A= (FANCL) | ||
| ENST00000696324.1:c.*510A= (FANCL) | ENSP00000512561.1:n.*510A= | |
| ENST00000696325.1:n.4143A= (FANCL) | ||
| ENST00000696326.1:c.1120A= (FANCL) | ENSP00000512562.1:p.Ile374= | |
| ENST00000696338.1:n.1174A= (FANCL) | ||
| ENST00000696339.1:n.2632A= (FANCL) | ||
| ENST00000696340.1:n.3286A= (FANCL) | ||
| ENST00000696341.1:n.1568A= (FANCL) | ||
| ENST00000696342.1:c.*2290A= (FANCL) | ENSP00000512569.1:n.*2290A= | |
| ENST00000696343.1:n.2919A= (FANCL) | ||
| ENST00000696344.1:c.*774A= (FANCL) | ENSP00000512570.1:n.*774A= | |
| ENST00000696358.1:n.3733A= (FANCL) | ||
| ENST00000696359.1:n.3410A= (FANCL) | ||
| ENST00000696360.1:n.1845A= (FANCL) | ||
| ENST00000696361.1:c.*1063A= (FANCL) | ENSP00000512579.1:n.*1063A= | |
| ENST00000696362.1:c.*510A= (FANCL) | ENSP00000512580.1:n.*510A= | |
| ENST00000696363.1:n.2837A= (FANCL) | ||
| ENST00000696364.1:n.1453A= (FANCL) | ||
| ENST00000696371.1:c.1051A= (FANCL) | ENSP00000512586.1:p.Ile351= | |
| ENST00000696372.1:n.2149A= (FANCL) | ||
| ENST00000696373.1:c.*2290A= (FANCL) | ENSP00000512587.1:n.*2290A= | |
| ENST00000696374.1:c.*428A= (FANCL) | ENSP00000512588.1:n.*428A= | |
| ENST00000696375.1:n.7993A= (FANCL) | ||
| ENST00000696376.1:n.6846A= (FANCL) | ||
| ENST00000696378.1:c.*1078A= (FANCL) | ENSP00000512589.1:n.*1078A= | |
| ENST00000696394.1:n.4562A= (FANCL) | ||
| ENST00000696395.1:n.4501A= (FANCL) | ||
| ENST00000696396.1:n.2214A= (FANCL) | ||
| ENST00000696397.1:n.3185A= (FANCL) | ||
| ENST00000696398.1:c.*207A= (FANCL) | ENSP00000512604.1:n.*207A= | |
| ENST00000696399.1:n.2334A= (FANCL) | ||
| ENST00000696400.1:c.*824A= (FANCL) | ENSP00000512605.1:n.*824A= | |
| ENST00000696409.1:c.*577A= (FANCL) | ENSP00000512610.1:n.*577A= | |
| ENST00000696410.1:c.*541A= (FANCL) | ENSP00000512611.1:n.*541A= | |
| ENST00000696411.1:n.765A= (FANCL) | ||
| ENST00000696412.1:n.1559A= (FANCL) | ||
| ENST00000696413.1:n.1062A= (FANCL) | ||
| ENST00000696414.1:n.2106A= (FANCL) | ||
| ENST00000696415.1:c.*33A= (FANCL) | ENSP00000512612.1:n.*33A= | |
| ENST00000696416.1:n.1068A= (FANCL) | ||
| ENST00000696432.1:n.3519A= (FANCL) | ||
| ENST00000696433.1:c.*113A= (FANCL) | ENSP00000512627.1:n.*113A= | |
| ENST00000696434.1:c.898A= (FANCL) | ENSP00000512628.1:p.Ile300= | |
| ENST00000696435.1:c.*207A= (FANCL) | ENSP00000512629.1:n.*207A= | |
| ENST00000696436.1:n.1014A= (FANCL) | ||
| ENST00000696437.1:n.1477A= (FANCL) | ||
| ENST00000696438.1:c.*893A= (FANCL) | ENSP00000512630.1:n.*893A= | |
| ENST00000696439.1:n.3109A= (FANCL) | ||
| ENST00000696440.1:n.2096A= (FANCL) | ||
| ENST00000696454.1:c.*411A= (FANCL) | ENSP00000512641.1:n.*411A= | |
| ENST00000696455.1:c.*113A= (FANCL) | ENSP00000512642.1:n.*113A= | |
| ENST00000696456.1:n.570A= (FANCL) | ||
| ENST00000696457.1:c.*1831A= (FANCL) | ENSP00000512643.1:n.*1831A= | |
| ENST00000696458.1:c.*33A= (FANCL) | ENSP00000512644.1:n.*33A= | |
| ENST00000696459.1:c.*495A= (FANCL) | ENSP00000512645.1:n.*495A= | |
| ENST00000696460.1:n.1557A= (FANCL) | ||
| ENST00000696467.1:c.*556A= (FANCL) | ENSP00000512648.1:n.*556A= | |
| ENST00000696468.1:c.*552A= (FANCL) | ENSP00000512649.1:n.*552A= | |
| ENST00000696469.1:c.*207A= (FANCL) | ENSP00000512650.1:n.*207A= | |
| ENST00000696470.1:n.3228A= (FANCL) | ||
| ENST00000696471.1:n.730A= (FANCL) | ||
| ENST00000696472.1:c.*113A= (FANCL) | ENSP00000512651.1:n.*113A= | |
| ENST00000696473.1:c.*743A= (FANCL) | ENSP00000512652.1:n.*743A= | |
| ENST00000696474.1:n.936A= (FANCL) | ||
| ENST00000696475.1:n.2568A= (FANCL) | ||
| ENST00000696492.1:c.*725A= (FANCL) | ENSP00000512662.1:n.*725A= | |
| ENST00000696493.1:c.*908A= (FANCL) | ENSP00000512663.1:n.*908A= | |
| ENST00000696494.1:n.1092A= (FANCL) | ||
| ENST00000696495.1:c.*806A= (FANCL) | ENSP00000512664.1:n.*806A= | |
| ENST00000696496.1:n.1599A= (FANCL) | ||
| ENST00000696497.1:n.4357A= (FANCL) | ||
| ENST00000696498.1:n.1819A= (FANCL) | ||
| ENST00000696499.1:c.*497A= (FANCL) | ENSP00000512665.1:n.*497A= | |
| ENST00000696508.1:c.*615A= (FANCL) | ENSP00000512674.1:n.*615A= | |
| ENST00000696509.1:c.*937A= (FANCL) | ENSP00000512675.1:n.*937A= | |
| ENST00000696510.1:c.532A= (FANCL) | ENSP00000512676.1:p.Ile178= | |
| ENST00000696527.1:c.*113A= (FANCL) | ENSP00000512690.1:n.*113A= | |
| ENST00000696528.1:c.*113A= (FANCL) | ENSP00000512691.1:n.*113A= | |
| ENST00000696529.1:n.923A= (FANCL) | ||
| ENST00000696530.1:c.856A= (FANCL) | ENSP00000512692.1:p.Ile286= | |
| ENST00000696531.1:c.*592A= (FANCL) | ENSP00000512693.1:n.*592A= | |
| ENST00000696532.1:n.2207A= (FANCL) | ||
| ENST00000696542.1:n.998A= (FANCL) | ||
| ENST00000696543.1:c.*113A= (FANCL) | ENSP00000512703.1:n.*113A= | |
| ENST00000696544.1:c.*113A= (FANCL) | ENSP00000512704.1:n.*113A= | |
| ENST00000696545.1:c.*728A= (FANCL) | ENSP00000512705.1:n.*728A= | |
| ENST00000696546.1:c.*839A= (FANCL) | ENSP00000512706.1:n.*839A= | |
| ENST00000696547.1:c.1048A= (FANCL) | ENSP00000512707.1:p.Ile350= | |
| ENST00000696548.1:c.*1264A= (FANCL) | ENSP00000512708.1:n.*1264A= | |
| ENST00000696564.1:c.*113A= (FANCL) | ENSP00000512722.1:n.*113A= | |
| ENST00000696565.1:c.*113A= (FANCL) | ENSP00000512723.1:n.*113A= | |
| ENST00000696566.1:n.3648A= (FANCL) | ||
| ENST00000696567.1:c.955A= (FANCL) | ENSP00000512724.1:p.Ile319= | |
| ENST00000696568.1:n.486A= (FANCL) | ||
| ENST00000696569.1:n.1169A= (FANCL) | ||
| ENST00000696570.1:c.*382A= (FANCL) | ENSP00000512725.1:n.*382A= | |
| ENST00000696619.1:n.2616A= (FANCL) | ||
| ENST00000696620.1:c.652A= (FANCL) | ENSP00000512759.1:p.Ile218= | |
| ENST00000696621.1:c.*207A= (FANCL) | ENSP00000512760.1:n.*207A= | |
| ENST00000696622.1:n.2791A= (FANCL) | ||
| ENST00000696623.1:n.1026A= (FANCL) | ||
| ENST00000696624.1:c.991A= (FANCL) | ENSP00000512761.1:p.Ile331= | |
| ENST00000696625.1:c.*510A= (FANCL) | ENSP00000512762.1:n.*510A= | |
| ENST00000696634.1:c.773A= (FANCL) | ENSP00000512770.1:n.773A= | |
| ENST00000696635.1:c.1036A= (FANCL) | ENSP00000512771.1:p.Ile346= | |
| ENST00000696636.1:n.3512A= (FANCL) | ||
| ENST00000696637.1:n.8133A= (FANCL) | ||
| ENST00000696638.1:n.1075A= (FANCL) | ||
| ENST00000696639.1:n.3138A= (FANCL) | ||
| ENST00000233741.9:c.1060A= (FANCL) MANE Select | ENSP00000233741.5:p.Ile354= | |
| ENST00000233741.8:c.1060A= (FANCL) | ENSP00000233741.4:p.Ile354= | |
| ENST00000402135.7:c.1075A= (FANCL) | ENSP00000385021.3:p.Ile359= | |
| ENST00000403295.7:c.976A= (FANCL) | ENSP00000386097.3:p.Ile326= | |
| ENST00000403676.5:c.709A= (FANCL) | ENSP00000384046.1:p.Ile237= | |
| ENST00000449070.5:c.883A= (FANCL) | ENSP00000401280.1:p.Ile295= | |
| NM_001114636.1:c.1075A= , LRG_501t1:c.1075A= (FANCL) | NP_001108108.1:p.Ile359= | |
| NM_018062.3:c.1060A= , LRG_501t2:c.1060A= (FANCL) | NP_060532.2:p.Ile354= | |
| XM_005264395.2:c.1060A= (FANCL) | XP_005264452.1:p.Ile354= | |
| XM_005264397.3:c.709A= (FANCL) | XP_005264454.1:p.Ile237= | |
| XM_011532939.1:c.1120A= (FANCL) | XP_011531241.1:p.Ile374= | |
| XM_011532940.1:c.1105A= (FANCL) | XP_011531242.1:p.Ile369= | |
| XM_011532941.1:c.1120A= (FANCL) | XP_011531243.1:p.Ile374= | |
| XM_011532942.1:c.1075A= (FANCL) | XP_011531244.1:p.Ile359= | |
| XM_011532943.1:c.1321A= (FANCL) | XP_011531245.1:p.Ile441= | |
| XM_011532944.1:c.769A= (FANCL) | XP_011531246.1:p.Ile257= | |
| XM_011532945.1:c.724A= (FANCL) | XP_011531247.1:p.Ile242= | |
| XR_939692.1:n.1059A= (FANCL) | ||
| NR_156742.1:n.849A= (FANCL) | ||
| XM_005264395.4:c.1060A= (FANCL) | XP_005264452.1:p.Ile354= | |
| XM_005264540.4:c.*447T= (VRK2) | XP_005264597.1:n.*447T= | |
| XM_006712090.4:c.*824T= (VRK2) | XP_006712153.1:n.*824T= | |
| XM_006712092.4:c.*447T= (VRK2) | XP_006712155.1:n.*447T= | |
| XM_006712093.4:c.*447T= (VRK2) | XP_006712156.1:n.*447T= | |
| XM_011532939.3:c.1120A= (FANCL) | XP_011531241.1:p.Ile374= | |
| XM_011532940.3:c.1105A= (FANCL) | XP_011531242.1:p.Ile369= | |
| XM_011532941.2:c.1120A= (FANCL) | XP_011531243.1:p.Ile374= | |
| XM_011532942.3:c.1075A= (FANCL) | XP_011531244.1:p.Ile359= | |
| XM_011532944.2:c.769A= (FANCL) | XP_011531246.1:p.Ile257= | |
| XM_011532945.2:c.724A= (FANCL) | XP_011531247.1:p.Ile242= | |
| XM_011533092.3:c.*447T= (VRK2) | XP_011531394.1:n.*447T= | |
| XM_017004414.2:c.1105A= (FANCL) | XP_016859903.1:p.Ile369= | |
| XM_017004416.1:c.709A= (FANCL) | XP_016859905.1:p.Ile237= | |
| XM_017004858.2:c.*824T= (VRK2) | XP_016860347.1:n.*824T= | |
| XM_017004859.2:c.*447T= (VRK2) | XP_016860348.1:n.*447T= | |
| XM_017004860.2:c.*447T= (VRK2) | XP_016860349.1:n.*447T= | |
| XM_017004861.2:c.*447T= (VRK2) | XP_016860350.1:n.*447T= | |
| XM_017004862.2:c.*447T= (VRK2) | XP_016860351.1:n.*447T= | |
| XM_017004863.2:c.*447T= (VRK2) | XP_016860352.1:n.*447T= | |
| XM_017004864.2:c.*824T= (VRK2) | XP_016860353.1:n.*824T= | |
| XM_017004865.1:c.*832T= (VRK2) | XP_016860354.1:n.*832T= | |
| XM_017004866.1:c.*832T= (VRK2) | XP_016860355.1:n.*832T= | |
| XR_001738802.2:n.1006A= (FANCL) | ||
| XR_001738803.2:n.991A= (FANCL) | ||
| XR_002959309.1:n.1702A= (FANCL) | ||
| XR_939692.2:n.1051A= (FANCL) | ||
| NM_001374615.1:c.1105A= (FANCL) | NP_001361544.1:p.Ile369= | |
| NM_018062.4:c.1060A= (FANCL) MANE Select | NP_060532.2:p.Ile354= | |
| NR_164659.1:n.941A= (FANCL) |