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.58160106A>C , CM000664.2:g.58160106A>C | GRCh38 |
| NC_000002.11:g.58387241A>C , CM000664.1:g.58387241A>C | GRCh37 |
| NC_000002.10:g.58240745A>C | NCBI36 |
| NG_007418.1:g.86274T>G , LRG_501:g.86274T>G | |
| NG_029717.2:g.257366A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1107+2T>G (FANCL) | ENSP00000385021.3:n.1107+2T>G | |
| ENST00000403295.8:c.1008+2T>G (FANCL) | ENSP00000386097.3:n.1008+2T>G | |
| ENST00000403676.6:c.*655+2T>G (FANCL) | ENSP00000384046.2:n.*655+2T>G | |
| ENST00000417361.2:c.*670+2T>G (FANCL) | ENSP00000389448.2:n.*670+2T>G | |
| ENST00000427708.7:c.1137+2T>G (FANCL) | ENSP00000400969.3:n.1137+2T>G | |
| ENST00000446381.6:c.648+2T>G (FANCL) | ENSP00000390991.2:n.648+2T>G | |
| ENST00000449070.6:c.915+2T>G (FANCL) | ENSP00000401280.2:n.915+2T>G | |
| ENST00000470506.2:n.1606+2T>G (FANCL) | ||
| ENST00000696305.1:c.1035+2T>G (FANCL) | ENSP00000512543.1:n.1035+2T>G | |
| ENST00000696306.1:c.*982+2T>G (FANCL) | ENSP00000512544.1:n.*982+2T>G | |
| ENST00000696307.1:c.1077+2T>G (FANCL) | ENSP00000512545.1:n.1077+2T>G | |
| ENST00000696314.1:c.*145+2T>G (FANCL) | ENSP00000512552.1:n.*145+2T>G | |
| ENST00000696315.1:c.*657T>G (FANCL) | ENSP00000512553.1:n.*657T>G | |
| ENST00000696316.1:c.975+2T>G (FANCL) | ENSP00000512554.1:n.975+2T>G | |
| ENST00000696317.1:c.*65+2T>G (FANCL) | ENSP00000512555.1:n.*65+2T>G | |
| ENST00000696318.1:c.*147T>G (FANCL) | ENSP00000512556.1:n.*147T>G | |
| ENST00000696319.1:c.1050+2T>G (FANCL) | ENSP00000512557.1:n.1050+2T>G | |
| ENST00000696320.1:n.2771+2T>G (FANCL) | ||
| ENST00000696324.1:c.*542+2T>G (FANCL) | ENSP00000512561.1:n.*542+2T>G | |
| ENST00000696325.1:n.4175+2T>G (FANCL) | ||
| ENST00000696326.1:c.1152+2T>G (FANCL) | ENSP00000512562.1:n.1152+2T>G | |
| ENST00000696338.1:n.1206+2T>G (FANCL) | ||
| ENST00000696339.1:n.2666T>G (FANCL) | ||
| ENST00000696340.1:n.3318+2T>G (FANCL) | ||
| ENST00000696341.1:n.1600+2T>G (FANCL) | ||
| ENST00000696342.1:c.*2324T>G (FANCL) | ENSP00000512569.1:n.*2324T>G | |
| ENST00000696343.1:n.2953T>G (FANCL) | ||
| ENST00000696344.1:c.*806+2T>G (FANCL) | ENSP00000512570.1:n.*806+2T>G | |
| ENST00000696358.1:n.3765+2T>G (FANCL) | ||
| ENST00000696359.1:n.3444T>G (FANCL) | ||
| ENST00000696360.1:n.1877+2T>G (FANCL) | ||
| ENST00000696361.1:c.*1095+2T>G (FANCL) | ENSP00000512579.1:n.*1095+2T>G | |
| ENST00000696362.1:c.*542+2T>G (FANCL) | ENSP00000512580.1:n.*542+2T>G | |
| ENST00000696363.1:n.2869+2T>G (FANCL) | ||
| ENST00000696364.1:n.1485+2T>G (FANCL) | ||
| ENST00000696371.1:c.1083+2T>G (FANCL) | ENSP00000512586.1:n.1083+2T>G | |
| ENST00000696372.1:n.2181+2T>G (FANCL) | ||
| ENST00000696373.1:c.*2322+2T>G (FANCL) | ENSP00000512587.1:n.*2322+2T>G | |
| ENST00000696374.1:c.*460+2T>G (FANCL) | ENSP00000512588.1:n.*460+2T>G | |
| ENST00000696375.1:n.8025+2T>G (FANCL) | ||
| ENST00000696376.1:n.6878+2T>G (FANCL) | ||
| ENST00000696378.1:c.*1110+2T>G (FANCL) | ENSP00000512589.1:n.*1110+2T>G | |
| ENST00000696394.1:n.4594+2T>G (FANCL) | ||
| ENST00000696395.1:n.4533+2T>G (FANCL) | ||
| ENST00000696396.1:n.2246+2T>G (FANCL) | ||
| ENST00000696397.1:n.3219T>G (FANCL) | ||
| ENST00000696398.1:c.*239+2T>G (FANCL) | ENSP00000512604.1:n.*239+2T>G | |
| ENST00000696399.1:n.2366+2T>G (FANCL) | ||
| ENST00000696400.1:c.*856+2T>G (FANCL) | ENSP00000512605.1:n.*856+2T>G | |
| ENST00000696409.1:c.*609+2T>G (FANCL) | ENSP00000512610.1:n.*609+2T>G | |
| ENST00000696410.1:c.*573+2T>G (FANCL) | ENSP00000512611.1:n.*573+2T>G | |
| ENST00000696411.1:n.797+2T>G (FANCL) | ||
| ENST00000696412.1:n.1591+2T>G (FANCL) | ||
| ENST00000696413.1:n.1096T>G (FANCL) | ||
| ENST00000696414.1:n.2138+2T>G (FANCL) | ||
| ENST00000696415.1:c.*65+2T>G (FANCL) | ENSP00000512612.1:n.*65+2T>G | |
| ENST00000696416.1:n.1102T>G (FANCL) | ||
| ENST00000696432.1:n.3551+2T>G (FANCL) | ||
| ENST00000696433.1:c.*145+2T>G (FANCL) | ENSP00000512627.1:n.*145+2T>G | |
| ENST00000696434.1:c.930+2T>G (FANCL) | ENSP00000512628.1:n.930+2T>G | |
| ENST00000696435.1:c.*239+2T>G (FANCL) | ENSP00000512629.1:n.*239+2T>G | |
| ENST00000696436.1:n.1046+2T>G (FANCL) | ||
| ENST00000696437.1:n.1511T>G (FANCL) | ||
| ENST00000696438.1:c.*925+2T>G (FANCL) | ENSP00000512630.1:n.*925+2T>G | |
| ENST00000696439.1:n.3141+2T>G (FANCL) | ||
| ENST00000696440.1:n.2128+2T>G (FANCL) | ||
| ENST00000696454.1:c.*443+2T>G (FANCL) | ENSP00000512641.1:n.*443+2T>G | |
| ENST00000696455.1:c.*145+2T>G (FANCL) | ENSP00000512642.1:n.*145+2T>G | |
| ENST00000696456.1:n.602+2T>G (FANCL) | ||
| ENST00000696457.1:c.*1863+2T>G (FANCL) | ENSP00000512643.1:n.*1863+2T>G | |
| ENST00000696458.1:c.*65+2T>G (FANCL) | ENSP00000512644.1:n.*65+2T>G | |
| ENST00000696459.1:c.*527+2T>G (FANCL) | ENSP00000512645.1:n.*527+2T>G | |
| ENST00000696460.1:n.1589+2T>G (FANCL) | ||
| ENST00000696467.1:c.*588+2T>G (FANCL) | ENSP00000512648.1:n.*588+2T>G | |
| ENST00000696468.1:c.*584+2T>G (FANCL) | ENSP00000512649.1:n.*584+2T>G | |
| ENST00000696469.1:c.*239+2T>G (FANCL) | ENSP00000512650.1:n.*239+2T>G | |
| ENST00000696470.1:n.3260+2T>G (FANCL) | ||
| ENST00000696471.1:n.762+2T>G (FANCL) | ||
| ENST00000696472.1:c.*145+2T>G (FANCL) | ENSP00000512651.1:n.*145+2T>G | |
| ENST00000696473.1:c.*775+2T>G (FANCL) | ENSP00000512652.1:n.*775+2T>G | |
| ENST00000696474.1:n.968+2T>G (FANCL) | ||
| ENST00000696475.1:n.2600+2T>G (FANCL) | ||
| ENST00000696492.1:c.*757+2T>G (FANCL) | ENSP00000512662.1:n.*757+2T>G | |
| ENST00000696493.1:c.*940+2T>G (FANCL) | ENSP00000512663.1:n.*940+2T>G | |
| ENST00000696494.1:n.1124+2T>G (FANCL) | ||
| ENST00000696495.1:c.*838+2T>G (FANCL) | ENSP00000512664.1:n.*838+2T>G | |
| ENST00000696496.1:n.1631+2T>G (FANCL) | ||
| ENST00000696497.1:n.4389+2T>G (FANCL) | ||
| ENST00000696498.1:n.1851+2T>G (FANCL) | ||
| ENST00000696499.1:c.*529+2T>G (FANCL) | ENSP00000512665.1:n.*529+2T>G | |
| ENST00000696508.1:c.*647+2T>G (FANCL) | ENSP00000512674.1:n.*647+2T>G | |
| ENST00000696509.1:c.*969+2T>G (FANCL) | ENSP00000512675.1:n.*969+2T>G | |
| ENST00000696510.1:c.564+2T>G (FANCL) | ENSP00000512676.1:n.564+2T>G | |
| ENST00000696527.1:c.*147T>G (FANCL) | ENSP00000512690.1:n.*147T>G | |
| ENST00000696528.1:c.*145+2T>G (FANCL) | ENSP00000512691.1:n.*145+2T>G | |
| ENST00000696529.1:n.955+2T>G (FANCL) | ||
| ENST00000696530.1:c.888+2T>G (FANCL) | ENSP00000512692.1:n.888+2T>G | |
| ENST00000696531.1:c.*624+2T>G (FANCL) | ENSP00000512693.1:n.*624+2T>G | |
| ENST00000696532.1:n.2239+2T>G (FANCL) | ||
| ENST00000696542.1:n.1030+2T>G (FANCL) | ||
| ENST00000696543.1:c.*145+2T>G (FANCL) | ENSP00000512703.1:n.*145+2T>G | |
| ENST00000696544.1:c.*145+2T>G (FANCL) | ENSP00000512704.1:n.*145+2T>G | |
| ENST00000696545.1:c.*760+2T>G (FANCL) | ENSP00000512705.1:n.*760+2T>G | |
| ENST00000696546.1:c.*871+2T>G (FANCL) | ENSP00000512706.1:n.*871+2T>G | |
| ENST00000696547.1:c.1080+2T>G (FANCL) | ENSP00000512707.1:n.1080+2T>G | |
| ENST00000696548.1:c.*1296+2T>G (FANCL) | ENSP00000512708.1:n.*1296+2T>G | |
| ENST00000696564.1:c.*145+2T>G (FANCL) | ENSP00000512722.1:n.*145+2T>G | |
| ENST00000696565.1:c.*145+2T>G (FANCL) | ENSP00000512723.1:n.*145+2T>G | |
| ENST00000696566.1:n.3680+2T>G (FANCL) | ||
| ENST00000696567.1:c.987+2T>G (FANCL) | ENSP00000512724.1:n.987+2T>G | |
| ENST00000696568.1:n.518+2T>G (FANCL) | ||
| ENST00000696569.1:n.1201+2T>G (FANCL) | ||
| ENST00000696570.1:c.*414+2T>G (FANCL) | ENSP00000512725.1:n.*414+2T>G | |
| ENST00000696619.1:n.2648+2T>G (FANCL) | ||
| ENST00000696620.1:c.684+2T>G (FANCL) | ENSP00000512759.1:n.684+2T>G | |
| ENST00000696621.1:c.*239+2T>G (FANCL) | ENSP00000512760.1:n.*239+2T>G | |
| ENST00000696622.1:n.2823+2T>G (FANCL) | ||
| ENST00000696623.1:n.1058+2T>G (FANCL) | ||
| ENST00000696624.1:c.1023+2T>G (FANCL) | ENSP00000512761.1:n.1023+2T>G | |
| ENST00000696625.1:c.*542+2T>G (FANCL) | ENSP00000512762.1:n.*542+2T>G | |
| ENST00000696634.1:c.805+2T>G (FANCL) | ENSP00000512770.1:n.805+2T>G | |
| ENST00000696635.1:c.1068+2T>G (FANCL) | ENSP00000512771.1:n.1068+2T>G | |
| ENST00000696636.1:n.3546T>G (FANCL) | ||
| ENST00000696637.1:n.8165+2T>G (FANCL) | ||
| ENST00000696638.1:n.1107+2T>G (FANCL) | ||
| ENST00000696639.1:n.3172T>G (FANCL) | ||
| ENST00000233741.9:c.1092+2T>G (FANCL) MANE Select | ENSP00000233741.5:n.1092+2T>G | |
| ENST00000233741.8:c.1092+2T>G (FANCL) | ENSP00000233741.4:n.1092+2T>G | |
| ENST00000402135.7:c.1107+2T>G (FANCL) | ENSP00000385021.3:n.1107+2T>G | |
| ENST00000403295.7:c.1008+2T>G (FANCL) | ENSP00000386097.3:n.1008+2T>G | |
| ENST00000403676.5:c.741+2T>G (FANCL) | ENSP00000384046.1:n.741+2T>G | |
| NM_001114636.1:c.1107+2T>G , LRG_501t1:c.1107+2T>G (FANCL) | NP_001108108.1:n.1107+2T>G | |
| NM_018062.3:c.1092+2T>G , LRG_501t2:c.1092+2T>G (FANCL) | NP_060532.2:n.1092+2T>G | |
| XM_005264395.2:c.1094T>G (FANCL) | XP_005264452.1:p.Val365Gly | |
| XM_005264397.3:c.741+2T>G (FANCL) | XP_005264454.1:n.741+2T>G | |
| XM_011532939.1:c.1154T>G (FANCL) | XP_011531241.1:p.Val385Gly | |
| XM_011532940.1:c.1139T>G (FANCL) | XP_011531242.1:p.Val380Gly | |
| XM_011532941.1:c.1152+2T>G (FANCL) | XP_011531243.1:n.1152+2T>G | |
| XM_011532942.1:c.1109T>G (FANCL) | XP_011531244.1:p.Val370Gly | |
| XM_011532943.1:c.1355T>G (FANCL) | XP_011531245.1:p.Val452Gly | |
| XM_011532944.1:c.803T>G (FANCL) | XP_011531246.1:p.Val268Gly | |
| XM_011532945.1:c.758T>G (FANCL) | XP_011531247.1:p.Val253Gly | |
| XR_939692.1:n.1091+2T>G (FANCL) | ||
| NR_156742.1:n.881+2T>G (FANCL) | ||
| XM_005264395.4:c.1094T>G (FANCL) | XP_005264452.1:p.Val365Gly | |
| XM_005264540.4:c.*413A>C (VRK2) | XP_005264597.1:n.*413A>C | |
| XM_006712090.4:c.*790A>C (VRK2) | XP_006712153.1:n.*790A>C | |
| XM_006712092.4:c.*413A>C (VRK2) | XP_006712155.1:n.*413A>C | |
| XM_006712093.4:c.*413A>C (VRK2) | XP_006712156.1:n.*413A>C | |
| XM_011532939.3:c.1154T>G (FANCL) | XP_011531241.1:p.Val385Gly | |
| XM_011532940.3:c.1139T>G (FANCL) | XP_011531242.1:p.Val380Gly | |
| XM_011532941.2:c.1152+2T>G (FANCL) | XP_011531243.1:n.1152+2T>G | |
| XM_011532942.3:c.1109T>G (FANCL) | XP_011531244.1:p.Val370Gly | |
| XM_011532944.2:c.803T>G (FANCL) | XP_011531246.1:p.Val268Gly | |
| XM_011532945.2:c.758T>G (FANCL) | XP_011531247.1:p.Val253Gly | |
| XM_011533092.3:c.*413A>C (VRK2) | XP_011531394.1:n.*413A>C | |
| XM_017004414.2:c.1137+2T>G (FANCL) | XP_016859903.1:n.1137+2T>G | |
| XM_017004416.1:c.743T>G (FANCL) | XP_016859905.1:p.Val248Gly | |
| XM_017004858.2:c.*790A>C (VRK2) | XP_016860347.1:n.*790A>C | |
| XM_017004859.2:c.*413A>C (VRK2) | XP_016860348.1:n.*413A>C | |
| XM_017004860.2:c.*413A>C (VRK2) | XP_016860349.1:n.*413A>C | |
| XM_017004861.2:c.*413A>C (VRK2) | XP_016860350.1:n.*413A>C | |
| XM_017004862.2:c.*413A>C (VRK2) | XP_016860351.1:n.*413A>C | |
| XM_017004863.2:c.*413A>C (VRK2) | XP_016860352.1:n.*413A>C | |
| XM_017004864.2:c.*790A>C (VRK2) | XP_016860353.1:n.*790A>C | |
| XM_017004865.1:c.*798A>C (VRK2) | XP_016860354.1:n.*798A>C | |
| XM_017004866.1:c.*798A>C (VRK2) | XP_016860355.1:n.*798A>C | |
| XR_001738802.2:n.1038+2T>G (FANCL) | ||
| XR_001738803.2:n.1023+2T>G (FANCL) | ||
| XR_002959309.1:n.1734+2T>G (FANCL) | ||
| XR_939692.2:n.1083+2T>G (FANCL) | ||
| NM_001374615.1:c.1137+2T>G (FANCL) | NP_001361544.1:n.1137+2T>G | |
| NM_018062.4:c.1092+2T>G (FANCL) MANE Select | NP_060532.2:n.1092+2T>G | |
| NR_164659.1:n.973+2T>G (FANCL) |