Canonical Allele Identifier: CA48352918
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58161528T>C , CM000664.2:g.58161528T>C GRCh38
NC_000002.11:g.58388663T>C , CM000664.1:g.58388663T>C GRCh37
NC_000002.10:g.58242167T>C NCBI36
NG_007418.1:g.84852A>G , LRG_501:g.84852A>G
NG_029717.2:g.258788T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.1014A>G (FANCL) MANE Select NP_060532.2:p.Leu338=
ENST00000233741.9:c.1014A>G (FANCL) MANE Select ENSP00000233741.5:p.Leu338=
NM_001114636.1:c.1029A>G , LRG_501t1:c.1029A>G (FANCL) NP_001108108.1:p.Leu343=
NM_001374615.1:c.1059A>G (FANCL) NP_001361544.1:p.Leu353=
NM_018062.3:c.1014A>G , LRG_501t2:c.1014A>G (FANCL) NP_060532.2:p.Leu338=
NR_156742.1:n.803A>G (FANCL)
NR_164659.1:n.895A>G (FANCL)
ENST00000233741.8:c.1014A>G (FANCL) ENSP00000233741.4:p.Leu338=
ENST00000402135.7:c.1029A>G (FANCL) ENSP00000385021.3:p.Leu343=
ENST00000402135.8:c.1029A>G (FANCL) ENSP00000385021.3:p.Leu343=
ENST00000403295.7:c.930A>G (FANCL) ENSP00000386097.3:p.Leu310=
ENST00000403295.8:c.930A>G (FANCL) ENSP00000386097.3:p.Leu310=
ENST00000403676.5:c.663A>G (FANCL) ENSP00000384046.1:p.Leu221=
ENST00000403676.6:c.*577A>G (FANCL) ENSP00000384046.2:n.*577A>G
ENST00000417361.2:c.*592A>G (FANCL) ENSP00000389448.2:n.*592A>G
ENST00000427708.7:c.1059A>G (FANCL) ENSP00000400969.3:p.Leu353=
ENST00000446381.6:c.570A>G (FANCL) ENSP00000390991.2:p.Leu190=
ENST00000449070.5:c.837A>G (FANCL) ENSP00000401280.1:p.Leu279=
ENST00000449070.6:c.837A>G (FANCL) ENSP00000401280.2:p.Leu279=
ENST00000470506.2:n.1528A>G (FANCL)
ENST00000696305.1:c.957A>G (FANCL) ENSP00000512543.1:p.Leu319=
ENST00000696306.1:c.*904A>G (FANCL) ENSP00000512544.1:n.*904A>G
ENST00000696307.1:c.999A>G (FANCL) ENSP00000512545.1:p.Leu333=
ENST00000696314.1:c.*67A>G (FANCL) ENSP00000512552.1:n.*67A>G
ENST00000696315.1:c.*577A>G (FANCL) ENSP00000512553.1:n.*577A>G
ENST00000696316.1:c.903+1338A>G (FANCL) ENSP00000512554.1:n.903+1338A>G
ENST00000696317.1:c.932A>G (FANCL) ENSP00000512555.1:p.Tyr311Cys
ENST00000696318.1:c.*67A>G (FANCL) ENSP00000512556.1:n.*67A>G
ENST00000696319.1:c.972A>G (FANCL) ENSP00000512557.1:p.Leu324=
ENST00000696320.1:n.2693A>G (FANCL)
ENST00000696324.1:c.*464A>G (FANCL) ENSP00000512561.1:n.*464A>G
ENST00000696325.1:n.4097A>G (FANCL)
ENST00000696326.1:c.1074A>G (FANCL) ENSP00000512562.1:p.Leu358=
ENST00000696338.1:n.1128A>G (FANCL)
ENST00000696339.1:n.2586A>G (FANCL)
ENST00000696340.1:n.3240A>G (FANCL)
ENST00000696341.1:n.1522A>G (FANCL)
ENST00000696342.1:c.*2244A>G (FANCL) ENSP00000512569.1:n.*2244A>G
ENST00000696343.1:n.2873A>G (FANCL)
ENST00000696344.1:c.*728A>G (FANCL) ENSP00000512570.1:n.*728A>G
ENST00000696358.1:n.3687A>G (FANCL)
ENST00000696359.1:n.3364A>G (FANCL)
ENST00000696360.1:n.1799A>G (FANCL)
ENST00000696361.1:c.*1017A>G (FANCL) ENSP00000512579.1:n.*1017A>G
ENST00000696362.1:c.*464A>G (FANCL) ENSP00000512580.1:n.*464A>G
ENST00000696363.1:n.2791A>G (FANCL)
ENST00000696364.1:n.1407A>G (FANCL)
ENST00000696371.1:c.1005A>G (FANCL) ENSP00000512586.1:p.Leu335=
ENST00000696372.1:n.2103A>G (FANCL)
ENST00000696373.1:c.*2244A>G (FANCL) ENSP00000512587.1:n.*2244A>G
ENST00000696374.1:c.*382A>G (FANCL) ENSP00000512588.1:n.*382A>G
ENST00000696375.1:n.7947A>G (FANCL)
ENST00000696376.1:n.6800A>G (FANCL)
ENST00000696378.1:c.*1032A>G (FANCL) ENSP00000512589.1:n.*1032A>G
ENST00000696394.1:n.4516A>G (FANCL)
ENST00000696395.1:n.4455A>G (FANCL)
ENST00000696396.1:n.2168A>G (FANCL)
ENST00000696397.1:n.3139A>G (FANCL)
ENST00000696398.1:c.*161A>G (FANCL) ENSP00000512604.1:n.*161A>G
ENST00000696399.1:n.2288A>G (FANCL)
ENST00000696400.1:c.*778A>G (FANCL) ENSP00000512605.1:n.*778A>G
ENST00000696409.1:c.*531A>G (FANCL) ENSP00000512610.1:n.*531A>G
ENST00000696410.1:c.*495A>G (FANCL) ENSP00000512611.1:n.*495A>G
ENST00000696411.1:n.719A>G (FANCL)
ENST00000696412.1:n.1513A>G (FANCL)
ENST00000696413.1:n.1016A>G (FANCL)
ENST00000696414.1:n.2060A>G (FANCL)
ENST00000696415.1:c.947A>G (FANCL) ENSP00000512612.1:p.Tyr316Cys
ENST00000696416.1:n.1022A>G (FANCL)
ENST00000696432.1:n.3473A>G (FANCL)
ENST00000696433.1:c.*67A>G (FANCL) ENSP00000512627.1:n.*67A>G
ENST00000696434.1:c.852A>G (FANCL) ENSP00000512628.1:p.Leu284=
ENST00000696435.1:c.*161A>G (FANCL) ENSP00000512629.1:n.*161A>G
ENST00000696436.1:n.968A>G (FANCL)
ENST00000696437.1:n.1431A>G (FANCL)
ENST00000696438.1:c.*847A>G (FANCL) ENSP00000512630.1:n.*847A>G
ENST00000696439.1:n.3063A>G (FANCL)
ENST00000696440.1:n.2050A>G (FANCL)
ENST00000696454.1:c.*365A>G (FANCL) ENSP00000512641.1:n.*365A>G
ENST00000696455.1:c.*67A>G (FANCL) ENSP00000512642.1:n.*67A>G
ENST00000696456.1:n.524A>G (FANCL)
ENST00000696457.1:c.*1785A>G (FANCL) ENSP00000512643.1:n.*1785A>G
ENST00000696458.1:c.875A>G (FANCL) ENSP00000512644.1:p.Tyr292Cys
ENST00000696459.1:c.*449A>G (FANCL) ENSP00000512645.1:n.*449A>G
ENST00000696460.1:n.1511A>G (FANCL)
ENST00000696467.1:c.*510A>G (FANCL) ENSP00000512648.1:n.*510A>G
ENST00000696468.1:c.*506A>G (FANCL) ENSP00000512649.1:n.*506A>G
ENST00000696469.1:c.*161A>G (FANCL) ENSP00000512650.1:n.*161A>G
ENST00000696470.1:n.3182A>G (FANCL)
ENST00000696471.1:n.684A>G (FANCL)
ENST00000696472.1:c.*67A>G (FANCL) ENSP00000512651.1:n.*67A>G
ENST00000696473.1:c.*697A>G (FANCL) ENSP00000512652.1:n.*697A>G
ENST00000696474.1:n.890A>G (FANCL)
ENST00000696475.1:n.2522A>G (FANCL)
ENST00000696492.1:c.*679A>G (FANCL) ENSP00000512662.1:n.*679A>G
ENST00000696493.1:c.*862A>G (FANCL) ENSP00000512663.1:n.*862A>G
ENST00000696494.1:n.1046A>G (FANCL)
ENST00000696495.1:c.*760A>G (FANCL) ENSP00000512664.1:n.*760A>G
ENST00000696496.1:n.1553A>G (FANCL)
ENST00000696497.1:n.4311A>G (FANCL)
ENST00000696498.1:n.1773A>G (FANCL)
ENST00000696499.1:c.*451A>G (FANCL) ENSP00000512665.1:n.*451A>G
ENST00000696508.1:c.*569A>G (FANCL) ENSP00000512674.1:n.*569A>G
ENST00000696509.1:c.*891A>G (FANCL) ENSP00000512675.1:n.*891A>G
ENST00000696510.1:c.486A>G (FANCL) ENSP00000512676.1:p.Leu162=
ENST00000696527.1:c.*67A>G (FANCL) ENSP00000512690.1:n.*67A>G
ENST00000696528.1:c.*67A>G (FANCL) ENSP00000512691.1:n.*67A>G
ENST00000696529.1:n.877A>G (FANCL)
ENST00000696530.1:c.810A>G (FANCL) ENSP00000512692.1:p.Leu270=
ENST00000696531.1:c.*546A>G (FANCL) ENSP00000512693.1:n.*546A>G
ENST00000696532.1:n.2161A>G (FANCL)
ENST00000696542.1:n.952A>G (FANCL)
ENST00000696543.1:c.*67A>G (FANCL) ENSP00000512703.1:n.*67A>G
ENST00000696544.1:c.*67A>G (FANCL) ENSP00000512704.1:n.*67A>G
ENST00000696545.1:c.*682A>G (FANCL) ENSP00000512705.1:n.*682A>G
ENST00000696546.1:c.*793A>G (FANCL) ENSP00000512706.1:n.*793A>G
ENST00000696547.1:c.1002A>G (FANCL) ENSP00000512707.1:p.Leu334=
ENST00000696548.1:c.*1218A>G (FANCL) ENSP00000512708.1:n.*1218A>G
ENST00000696564.1:c.*67A>G (FANCL) ENSP00000512722.1:n.*67A>G
ENST00000696565.1:c.*67A>G (FANCL) ENSP00000512723.1:n.*67A>G
ENST00000696566.1:n.3602A>G (FANCL)
ENST00000696567.1:c.909A>G (FANCL) ENSP00000512724.1:p.Leu303=
ENST00000696569.1:n.1123A>G (FANCL)
ENST00000696570.1:c.*336A>G (FANCL) ENSP00000512725.1:n.*336A>G
ENST00000696619.1:n.2570A>G (FANCL)
ENST00000696620.1:c.606A>G (FANCL) ENSP00000512759.1:p.Leu202=
ENST00000696621.1:c.*161A>G (FANCL) ENSP00000512760.1:n.*161A>G
ENST00000696622.1:n.2745A>G (FANCL)
ENST00000696623.1:n.980A>G (FANCL)
ENST00000696624.1:c.945A>G (FANCL) ENSP00000512761.1:p.Leu315=
ENST00000696625.1:c.*464A>G (FANCL) ENSP00000512762.1:n.*464A>G
ENST00000696634.1:c.727A>G (FANCL) ENSP00000512770.1:n.727A>G
ENST00000696635.1:c.990A>G (FANCL) ENSP00000512771.1:p.Leu330=
ENST00000696636.1:n.3466A>G (FANCL)
ENST00000696637.1:n.8087A>G (FANCL)
ENST00000696638.1:n.1029A>G (FANCL)
ENST00000696639.1:n.3092A>G (FANCL)
XM_005264395.2:c.1014A>G (FANCL) XP_005264452.1:p.Leu338=
XM_005264395.4:c.1014A>G (FANCL) XP_005264452.1:p.Leu338=
XM_005264397.3:c.663A>G (FANCL) XP_005264454.1:p.Leu221=
XM_005264540.4:c.*1835T>C (VRK2) XP_005264597.1:n.*1835T>C
XM_006712092.4:c.*1835T>C (VRK2) XP_006712155.1:n.*1835T>C
XM_006712093.4:c.*1835T>C (VRK2) XP_006712156.1:n.*1835T>C
XM_011532939.1:c.1074A>G (FANCL) XP_011531241.1:p.Leu358=
XM_011532939.3:c.1074A>G (FANCL) XP_011531241.1:p.Leu358=
XM_011532940.1:c.1059A>G (FANCL) XP_011531242.1:p.Leu353=
XM_011532940.3:c.1059A>G (FANCL) XP_011531242.1:p.Leu353=
XM_011532941.1:c.1074A>G (FANCL) XP_011531243.1:p.Leu358=
XM_011532941.2:c.1074A>G (FANCL) XP_011531243.1:p.Leu358=
XM_011532942.1:c.1029A>G (FANCL) XP_011531244.1:p.Leu343=
XM_011532942.3:c.1029A>G (FANCL) XP_011531244.1:p.Leu343=
XM_011532943.1:c.1275A>G (FANCL) XP_011531245.1:p.Leu425=
XM_011532944.1:c.723A>G (FANCL) XP_011531246.1:p.Leu241=
XM_011532944.2:c.723A>G (FANCL) XP_011531246.1:p.Leu241=
XM_011532945.1:c.678A>G (FANCL) XP_011531247.1:p.Leu226=
XM_011532945.2:c.678A>G (FANCL) XP_011531247.1:p.Leu226=
XM_011533092.3:c.*1835T>C (VRK2) XP_011531394.1:n.*1835T>C
XM_017004414.2:c.1059A>G (FANCL) XP_016859903.1:p.Leu353=
XM_017004416.1:c.663A>G (FANCL) XP_016859905.1:p.Leu221=
XM_017004859.2:c.*1835T>C (VRK2) XP_016860348.1:n.*1835T>C
XM_017004860.2:c.*1835T>C (VRK2) XP_016860349.1:n.*1835T>C
XM_017004861.2:c.*1835T>C (VRK2) XP_016860350.1:n.*1835T>C
XM_017004862.2:c.*1835T>C (VRK2) XP_016860351.1:n.*1835T>C
XM_017004863.2:c.*1835T>C (VRK2) XP_016860352.1:n.*1835T>C
XM_017004864.2:c.*2212T>C (VRK2) XP_016860353.1:n.*2212T>C
XM_017004865.1:c.*2220T>C (VRK2) XP_016860354.1:n.*2220T>C
XM_017004866.1:c.*2220T>C (VRK2) XP_016860355.1:n.*2220T>C
XR_001738802.2:n.960A>G (FANCL)
XR_001738803.2:n.945A>G (FANCL)
XR_002959309.1:n.1656A>G (FANCL)
XR_939692.1:n.1013A>G (FANCL)
XR_939692.2:n.1005A>G (FANCL)
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