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.58160125A= , CM000664.2:g.58160125A= | GRCh38 |
| NC_000002.11:g.58387260A= , CM000664.1:g.58387260A= | GRCh37 |
| NC_000002.10:g.58240764A= | NCBI36 |
| NG_007418.1:g.86255T= , LRG_501:g.86255T= | |
| NG_029717.2:g.257385A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1090T= (FANCL) | ENSP00000385021.3:p.Cys364= | |
| ENST00000403295.8:c.991T= (FANCL) | ENSP00000386097.3:p.Cys331= | |
| ENST00000403676.6:c.*638T= (FANCL) | ENSP00000384046.2:n.*638T= | |
| ENST00000417361.2:c.*653T= (FANCL) | ENSP00000389448.2:n.*653T= | |
| ENST00000427708.7:c.1120T= (FANCL) | ENSP00000400969.3:p.Cys374= | |
| ENST00000446381.6:c.631T= (FANCL) | ENSP00000390991.2:p.Cys211= | |
| ENST00000449070.6:c.898T= (FANCL) | ENSP00000401280.2:p.Cys300= | |
| ENST00000470506.2:n.1589T= (FANCL) | ||
| ENST00000696305.1:c.1018T= (FANCL) | ENSP00000512543.1:p.Cys340= | |
| ENST00000696306.1:c.*965T= (FANCL) | ENSP00000512544.1:n.*965T= | |
| ENST00000696307.1:c.1060T= (FANCL) | ENSP00000512545.1:p.Cys354= | |
| ENST00000696314.1:c.*128T= (FANCL) | ENSP00000512552.1:n.*128T= | |
| ENST00000696315.1:c.*638T= (FANCL) | ENSP00000512553.1:n.*638T= | |
| ENST00000696316.1:c.958T= (FANCL) | ENSP00000512554.1:p.Cys320= | |
| ENST00000696317.1:c.*48T= (FANCL) | ENSP00000512555.1:n.*48T= | |
| ENST00000696318.1:c.*128T= (FANCL) | ENSP00000512556.1:n.*128T= | |
| ENST00000696319.1:c.1033T= (FANCL) | ENSP00000512557.1:p.Cys345= | |
| ENST00000696320.1:n.2754T= (FANCL) | ||
| ENST00000696324.1:c.*525T= (FANCL) | ENSP00000512561.1:n.*525T= | |
| ENST00000696325.1:n.4158T= (FANCL) | ||
| ENST00000696326.1:c.1135T= (FANCL) | ENSP00000512562.1:p.Cys379= | |
| ENST00000696338.1:n.1189T= (FANCL) | ||
| ENST00000696339.1:n.2647T= (FANCL) | ||
| ENST00000696340.1:n.3301T= (FANCL) | ||
| ENST00000696341.1:n.1583T= (FANCL) | ||
| ENST00000696342.1:c.*2305T= (FANCL) | ENSP00000512569.1:n.*2305T= | |
| ENST00000696343.1:n.2934T= (FANCL) | ||
| ENST00000696344.1:c.*789T= (FANCL) | ENSP00000512570.1:n.*789T= | |
| ENST00000696358.1:n.3748T= (FANCL) | ||
| ENST00000696359.1:n.3425T= (FANCL) | ||
| ENST00000696360.1:n.1860T= (FANCL) | ||
| ENST00000696361.1:c.*1078T= (FANCL) | ENSP00000512579.1:n.*1078T= | |
| ENST00000696362.1:c.*525T= (FANCL) | ENSP00000512580.1:n.*525T= | |
| ENST00000696363.1:n.2852T= (FANCL) | ||
| ENST00000696364.1:n.1468T= (FANCL) | ||
| ENST00000696371.1:c.1066T= (FANCL) | ENSP00000512586.1:p.Cys356= | |
| ENST00000696372.1:n.2164T= (FANCL) | ||
| ENST00000696373.1:c.*2305T= (FANCL) | ENSP00000512587.1:n.*2305T= | |
| ENST00000696374.1:c.*443T= (FANCL) | ENSP00000512588.1:n.*443T= | |
| ENST00000696375.1:n.8008T= (FANCL) | ||
| ENST00000696376.1:n.6861T= (FANCL) | ||
| ENST00000696378.1:c.*1093T= (FANCL) | ENSP00000512589.1:n.*1093T= | |
| ENST00000696394.1:n.4577T= (FANCL) | ||
| ENST00000696395.1:n.4516T= (FANCL) | ||
| ENST00000696396.1:n.2229T= (FANCL) | ||
| ENST00000696397.1:n.3200T= (FANCL) | ||
| ENST00000696398.1:c.*222T= (FANCL) | ENSP00000512604.1:n.*222T= | |
| ENST00000696399.1:n.2349T= (FANCL) | ||
| ENST00000696400.1:c.*839T= (FANCL) | ENSP00000512605.1:n.*839T= | |
| ENST00000696409.1:c.*592T= (FANCL) | ENSP00000512610.1:n.*592T= | |
| ENST00000696410.1:c.*556T= (FANCL) | ENSP00000512611.1:n.*556T= | |
| ENST00000696411.1:n.780T= (FANCL) | ||
| ENST00000696412.1:n.1574T= (FANCL) | ||
| ENST00000696413.1:n.1077T= (FANCL) | ||
| ENST00000696414.1:n.2121T= (FANCL) | ||
| ENST00000696415.1:c.*48T= (FANCL) | ENSP00000512612.1:n.*48T= | |
| ENST00000696416.1:n.1083T= (FANCL) | ||
| ENST00000696432.1:n.3534T= (FANCL) | ||
| ENST00000696433.1:c.*128T= (FANCL) | ENSP00000512627.1:n.*128T= | |
| ENST00000696434.1:c.913T= (FANCL) | ENSP00000512628.1:p.Cys305= | |
| ENST00000696435.1:c.*222T= (FANCL) | ENSP00000512629.1:n.*222T= | |
| ENST00000696436.1:n.1029T= (FANCL) | ||
| ENST00000696437.1:n.1492T= (FANCL) | ||
| ENST00000696438.1:c.*908T= (FANCL) | ENSP00000512630.1:n.*908T= | |
| ENST00000696439.1:n.3124T= (FANCL) | ||
| ENST00000696440.1:n.2111T= (FANCL) | ||
| ENST00000696454.1:c.*426T= (FANCL) | ENSP00000512641.1:n.*426T= | |
| ENST00000696455.1:c.*128T= (FANCL) | ENSP00000512642.1:n.*128T= | |
| ENST00000696456.1:n.585T= (FANCL) | ||
| ENST00000696457.1:c.*1846T= (FANCL) | ENSP00000512643.1:n.*1846T= | |
| ENST00000696458.1:c.*48T= (FANCL) | ENSP00000512644.1:n.*48T= | |
| ENST00000696459.1:c.*510T= (FANCL) | ENSP00000512645.1:n.*510T= | |
| ENST00000696460.1:n.1572T= (FANCL) | ||
| ENST00000696467.1:c.*571T= (FANCL) | ENSP00000512648.1:n.*571T= | |
| ENST00000696468.1:c.*567T= (FANCL) | ENSP00000512649.1:n.*567T= | |
| ENST00000696469.1:c.*222T= (FANCL) | ENSP00000512650.1:n.*222T= | |
| ENST00000696470.1:n.3243T= (FANCL) | ||
| ENST00000696471.1:n.745T= (FANCL) | ||
| ENST00000696472.1:c.*128T= (FANCL) | ENSP00000512651.1:n.*128T= | |
| ENST00000696473.1:c.*758T= (FANCL) | ENSP00000512652.1:n.*758T= | |
| ENST00000696474.1:n.951T= (FANCL) | ||
| ENST00000696475.1:n.2583T= (FANCL) | ||
| ENST00000696492.1:c.*740T= (FANCL) | ENSP00000512662.1:n.*740T= | |
| ENST00000696493.1:c.*923T= (FANCL) | ENSP00000512663.1:n.*923T= | |
| ENST00000696494.1:n.1107T= (FANCL) | ||
| ENST00000696495.1:c.*821T= (FANCL) | ENSP00000512664.1:n.*821T= | |
| ENST00000696496.1:n.1614T= (FANCL) | ||
| ENST00000696497.1:n.4372T= (FANCL) | ||
| ENST00000696498.1:n.1834T= (FANCL) | ||
| ENST00000696499.1:c.*512T= (FANCL) | ENSP00000512665.1:n.*512T= | |
| ENST00000696508.1:c.*630T= (FANCL) | ENSP00000512674.1:n.*630T= | |
| ENST00000696509.1:c.*952T= (FANCL) | ENSP00000512675.1:n.*952T= | |
| ENST00000696510.1:c.547T= (FANCL) | ENSP00000512676.1:p.Cys183= | |
| ENST00000696527.1:c.*128T= (FANCL) | ENSP00000512690.1:n.*128T= | |
| ENST00000696528.1:c.*128T= (FANCL) | ENSP00000512691.1:n.*128T= | |
| ENST00000696529.1:n.938T= (FANCL) | ||
| ENST00000696530.1:c.871T= (FANCL) | ENSP00000512692.1:p.Cys291= | |
| ENST00000696531.1:c.*607T= (FANCL) | ENSP00000512693.1:n.*607T= | |
| ENST00000696532.1:n.2222T= (FANCL) | ||
| ENST00000696542.1:n.1013T= (FANCL) | ||
| ENST00000696543.1:c.*128T= (FANCL) | ENSP00000512703.1:n.*128T= | |
| ENST00000696544.1:c.*128T= (FANCL) | ENSP00000512704.1:n.*128T= | |
| ENST00000696545.1:c.*743T= (FANCL) | ENSP00000512705.1:n.*743T= | |
| ENST00000696546.1:c.*854T= (FANCL) | ENSP00000512706.1:n.*854T= | |
| ENST00000696547.1:c.1063T= (FANCL) | ENSP00000512707.1:p.Cys355= | |
| ENST00000696548.1:c.*1279T= (FANCL) | ENSP00000512708.1:n.*1279T= | |
| ENST00000696564.1:c.*128T= (FANCL) | ENSP00000512722.1:n.*128T= | |
| ENST00000696565.1:c.*128T= (FANCL) | ENSP00000512723.1:n.*128T= | |
| ENST00000696566.1:n.3663T= (FANCL) | ||
| ENST00000696567.1:c.970T= (FANCL) | ENSP00000512724.1:p.Cys324= | |
| ENST00000696568.1:n.501T= (FANCL) | ||
| ENST00000696569.1:n.1184T= (FANCL) | ||
| ENST00000696570.1:c.*397T= (FANCL) | ENSP00000512725.1:n.*397T= | |
| ENST00000696619.1:n.2631T= (FANCL) | ||
| ENST00000696620.1:c.667T= (FANCL) | ENSP00000512759.1:p.Cys223= | |
| ENST00000696621.1:c.*222T= (FANCL) | ENSP00000512760.1:n.*222T= | |
| ENST00000696622.1:n.2806T= (FANCL) | ||
| ENST00000696623.1:n.1041T= (FANCL) | ||
| ENST00000696624.1:c.1006T= (FANCL) | ENSP00000512761.1:p.Cys336= | |
| ENST00000696625.1:c.*525T= (FANCL) | ENSP00000512762.1:n.*525T= | |
| ENST00000696634.1:c.788T= (FANCL) | ENSP00000512770.1:n.788T= | |
| ENST00000696635.1:c.1051T= (FANCL) | ENSP00000512771.1:p.Cys351= | |
| ENST00000696636.1:n.3527T= (FANCL) | ||
| ENST00000696637.1:n.8148T= (FANCL) | ||
| ENST00000696638.1:n.1090T= (FANCL) | ||
| ENST00000696639.1:n.3153T= (FANCL) | ||
| ENST00000233741.9:c.1075T= (FANCL) MANE Select | ENSP00000233741.5:p.Cys359= | |
| ENST00000233741.8:c.1075T= (FANCL) | ENSP00000233741.4:p.Cys359= | |
| ENST00000402135.7:c.1090T= (FANCL) | ENSP00000385021.3:p.Cys364= | |
| ENST00000403295.7:c.991T= (FANCL) | ENSP00000386097.3:p.Cys331= | |
| ENST00000403676.5:c.724T= (FANCL) | ENSP00000384046.1:p.Cys242= | |
| ENST00000449070.5:c.898T= (FANCL) | ENSP00000401280.1:p.Cys300= | |
| NM_001114636.1:c.1090T= , LRG_501t1:c.1090T= (FANCL) | NP_001108108.1:p.Cys364= | |
| NM_018062.3:c.1075T= , LRG_501t2:c.1075T= (FANCL) | NP_060532.2:p.Cys359= | |
| XM_005264395.2:c.1075T= (FANCL) | XP_005264452.1:p.Cys359= | |
| XM_005264397.3:c.724T= (FANCL) | XP_005264454.1:p.Cys242= | |
| XM_011532939.1:c.1135T= (FANCL) | XP_011531241.1:p.Cys379= | |
| XM_011532940.1:c.1120T= (FANCL) | XP_011531242.1:p.Cys374= | |
| XM_011532941.1:c.1135T= (FANCL) | XP_011531243.1:p.Cys379= | |
| XM_011532942.1:c.1090T= (FANCL) | XP_011531244.1:p.Cys364= | |
| XM_011532943.1:c.1336T= (FANCL) | XP_011531245.1:p.Cys446= | |
| XM_011532944.1:c.784T= (FANCL) | XP_011531246.1:p.Cys262= | |
| XM_011532945.1:c.739T= (FANCL) | XP_011531247.1:p.Cys247= | |
| XR_939692.1:n.1074T= (FANCL) | ||
| NR_156742.1:n.864T= (FANCL) | ||
| XM_005264395.4:c.1075T= (FANCL) | XP_005264452.1:p.Cys359= | |
| XM_005264540.4:c.*432A= (VRK2) | XP_005264597.1:n.*432A= | |
| XM_006712090.4:c.*809A= (VRK2) | XP_006712153.1:n.*809A= | |
| XM_006712092.4:c.*432A= (VRK2) | XP_006712155.1:n.*432A= | |
| XM_006712093.4:c.*432A= (VRK2) | XP_006712156.1:n.*432A= | |
| XM_011532939.3:c.1135T= (FANCL) | XP_011531241.1:p.Cys379= | |
| XM_011532940.3:c.1120T= (FANCL) | XP_011531242.1:p.Cys374= | |
| XM_011532941.2:c.1135T= (FANCL) | XP_011531243.1:p.Cys379= | |
| XM_011532942.3:c.1090T= (FANCL) | XP_011531244.1:p.Cys364= | |
| XM_011532944.2:c.784T= (FANCL) | XP_011531246.1:p.Cys262= | |
| XM_011532945.2:c.739T= (FANCL) | XP_011531247.1:p.Cys247= | |
| XM_011533092.3:c.*432A= (VRK2) | XP_011531394.1:n.*432A= | |
| XM_017004414.2:c.1120T= (FANCL) | XP_016859903.1:p.Cys374= | |
| XM_017004416.1:c.724T= (FANCL) | XP_016859905.1:p.Cys242= | |
| XM_017004858.2:c.*809A= (VRK2) | XP_016860347.1:n.*809A= | |
| XM_017004859.2:c.*432A= (VRK2) | XP_016860348.1:n.*432A= | |
| XM_017004860.2:c.*432A= (VRK2) | XP_016860349.1:n.*432A= | |
| XM_017004861.2:c.*432A= (VRK2) | XP_016860350.1:n.*432A= | |
| XM_017004862.2:c.*432A= (VRK2) | XP_016860351.1:n.*432A= | |
| XM_017004863.2:c.*432A= (VRK2) | XP_016860352.1:n.*432A= | |
| XM_017004864.2:c.*809A= (VRK2) | XP_016860353.1:n.*809A= | |
| XM_017004865.1:c.*817A= (VRK2) | XP_016860354.1:n.*817A= | |
| XM_017004866.1:c.*817A= (VRK2) | XP_016860355.1:n.*817A= | |
| XR_001738802.2:n.1021T= (FANCL) | ||
| XR_001738803.2:n.1006T= (FANCL) | ||
| XR_002959309.1:n.1717T= (FANCL) | ||
| XR_939692.2:n.1066T= (FANCL) | ||
| NM_001374615.1:c.1120T= (FANCL) | NP_001361544.1:p.Cys374= | |
| NM_018062.4:c.1075T= (FANCL) MANE Select | NP_060532.2:p.Cys359= | |
| NR_164659.1:n.956T= (FANCL) |