Canonical Allele Identifier: CA346935862
Community Standard Title: NM_018062.4(FANCL):c.775+2T>C

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58163432A>G , CM000664.2:g.58163432A>G GRCh38
NC_000002.11:g.58390567A>G , CM000664.1:g.58390567A>G GRCh37
NC_000002.10:g.58244071A>G NCBI36
NG_007418.1:g.82948T>C , LRG_501:g.82948T>C

Transcript Alleles

HGVS Amino-acid Change
NM_018062.4:c.775+2T>C (FANCL) MANE Select NP_060532.2:n.775+2T>C
ENST00000233741.9:c.775+2T>C (FANCL) MANE Select ENSP00000233741.5:n.775+2T>C
NM_001114636.1:c.790+2T>C , LRG_501t1:c.790+2T>C (FANCL) NP_001108108.1:n.790+2T>C
NM_001374615.1:c.820+2T>C (FANCL) NP_001361544.1:n.820+2T>C
NM_018062.3:c.775+2T>C , LRG_501t2:c.775+2T>C (FANCL) NP_060532.2:n.775+2T>C
NR_156742.1:n.564+2T>C (FANCL)
NR_164659.1:n.784+2T>C (FANCL)
ENST00000233741.8:c.775+2T>C (FANCL) ENSP00000233741.4:n.775+2T>C
ENST00000402135.7:c.790+2T>C (FANCL) ENSP00000385021.3:n.790+2T>C
ENST00000402135.8:c.790+2T>C (FANCL) ENSP00000385021.3:n.790+2T>C
ENST00000403295.7:c.692-358T>C (FANCL) ENSP00000386097.3:n.692-358T>C
ENST00000403295.8:c.692-358T>C (FANCL) ENSP00000386097.3:n.692-358T>C
ENST00000403676.5:c.424+2T>C (FANCL) ENSP00000384046.1:n.424+2T>C
ENST00000403676.6:c.*338+2T>C (FANCL) ENSP00000384046.2:n.*338+2T>C
ENST00000417361.2:c.*353+2T>C (FANCL) ENSP00000389448.2:n.*353+2T>C
ENST00000427708.6:c.818+2T>C (FANCL)
ENST00000427708.7:c.820+2T>C (FANCL) ENSP00000400969.3:n.820+2T>C
ENST00000446381.5:c.331+2T>C (FANCL) ENSP00000390991.1:n.331+2T>C
ENST00000446381.6:c.331+2T>C (FANCL) ENSP00000390991.2:n.331+2T>C
ENST00000449070.5:c.598+2T>C (FANCL) ENSP00000401280.1:n.598+2T>C
ENST00000449070.6:c.598+2T>C (FANCL) ENSP00000401280.2:n.598+2T>C
ENST00000470506.1:n.166T>C (FANCL)
ENST00000470506.2:n.851T>C (FANCL)
ENST00000696305.1:c.718+2T>C (FANCL) ENSP00000512543.1:n.718+2T>C
ENST00000696306.1:c.*227T>C (FANCL) ENSP00000512544.1:n.*227T>C
ENST00000696307.1:c.775+2T>C (FANCL) ENSP00000512545.1:n.775+2T>C
ENST00000696314.1:c.775+2T>C (FANCL) ENSP00000512552.1:n.775+2T>C
ENST00000696315.1:c.*338+2T>C (FANCL) ENSP00000512553.1:n.*338+2T>C
ENST00000696316.1:c.775+2T>C (FANCL) ENSP00000512554.1:n.775+2T>C
ENST00000696317.1:c.775+2T>C (FANCL) ENSP00000512555.1:n.775+2T>C
ENST00000696318.1:c.331+2T>C (FANCL) ENSP00000512556.1:n.331+2T>C
ENST00000696319.1:c.733+2T>C (FANCL) ENSP00000512557.1:n.733+2T>C
ENST00000696320.1:n.789T>C (FANCL)
ENST00000696324.1:c.*353+2T>C (FANCL) ENSP00000512561.1:n.*353+2T>C
ENST00000696325.1:n.3858+2T>C (FANCL)
ENST00000696326.1:c.835+2T>C (FANCL) ENSP00000512562.1:n.835+2T>C
ENST00000696338.1:n.808+2T>C (FANCL)
ENST00000696339.1:n.2475+2T>C (FANCL)
ENST00000696340.1:n.3001+2T>C (FANCL)
ENST00000696341.1:n.845T>C (FANCL)
ENST00000696342.1:c.*340T>C (FANCL) ENSP00000512569.1:n.*340T>C
ENST00000696343.1:n.2634+2T>C (FANCL)
ENST00000696344.1:c.*489+2T>C (FANCL) ENSP00000512570.1:n.*489+2T>C
ENST00000696345.1:n.804T>C (FANCL)
ENST00000696358.1:n.3010T>C (FANCL)
ENST00000696359.1:n.1460T>C (FANCL)
ENST00000696360.1:n.1479+2T>C (FANCL)
ENST00000696361.1:c.*340T>C (FANCL) ENSP00000512579.1:n.*340T>C
ENST00000696362.1:c.*225+2T>C (FANCL) ENSP00000512580.1:n.*225+2T>C
ENST00000696363.1:n.2552+2T>C (FANCL)
ENST00000696364.1:n.730T>C (FANCL)
ENST00000696371.1:c.766+2T>C (FANCL) ENSP00000512586.1:n.766+2T>C
ENST00000696372.1:n.1783+2T>C (FANCL)
ENST00000696373.1:c.*340T>C (FANCL) ENSP00000512587.1:n.*340T>C
ENST00000696374.1:c.*225+2T>C (FANCL) ENSP00000512588.1:n.*225+2T>C
ENST00000696375.1:n.7270T>C (FANCL)
ENST00000696376.1:n.4896T>C (FANCL)
ENST00000696377.1:n.664T>C (FANCL)
ENST00000696378.1:c.*355T>C (FANCL) ENSP00000512589.1:n.*355T>C
ENST00000696394.1:n.3839T>C (FANCL)
ENST00000696395.1:n.2551T>C (FANCL)
ENST00000696396.1:n.1491T>C (FANCL)
ENST00000696397.1:n.2462T>C (FANCL)
ENST00000696398.1:c.775+2T>C (FANCL) ENSP00000512604.1:n.775+2T>C
ENST00000696399.1:n.384T>C (FANCL)
ENST00000696400.1:c.*539+2T>C (FANCL) ENSP00000512605.1:n.*539+2T>C
ENST00000696401.1:n.757+2T>C (FANCL)
ENST00000696402.1:n.149T>C (FANCL)
ENST00000696409.1:c.*338+2T>C (FANCL) ENSP00000512610.1:n.*338+2T>C
ENST00000696410.1:c.*338+2T>C (FANCL) ENSP00000512611.1:n.*338+2T>C
ENST00000696411.1:n.399+2T>C (FANCL)
ENST00000696412.1:n.1274+2T>C (FANCL)
ENST00000696413.1:n.905+2T>C (FANCL)
ENST00000696414.1:n.1383T>C (FANCL)
ENST00000696415.1:c.790+2T>C (FANCL) ENSP00000512612.1:n.790+2T>C
ENST00000696416.1:n.345T>C (FANCL)
ENST00000696417.1:c.*505+2T>C (FANCL) ENSP00000512613.1:n.*505+2T>C
ENST00000696432.1:n.3234+2T>C (FANCL)
ENST00000696433.1:c.331+2T>C (FANCL) ENSP00000512627.1:n.331+2T>C
ENST00000696434.1:c.613+2T>C (FANCL) ENSP00000512628.1:n.613+2T>C
ENST00000696435.1:c.331+2T>C (FANCL) ENSP00000512629.1:n.331+2T>C
ENST00000696436.1:n.811+2T>C (FANCL)
ENST00000696437.1:n.1192+2T>C (FANCL)
ENST00000696438.1:c.*608+2T>C (FANCL) ENSP00000512630.1:n.*608+2T>C
ENST00000696439.1:n.2824+2T>C (FANCL)
ENST00000696440.1:n.1939+2T>C (FANCL)
ENST00000696454.1:c.*255-1794T>C (FANCL) ENSP00000512641.1:n.*255-1794T>C
ENST00000696455.1:c.613+2T>C (FANCL) ENSP00000512642.1:n.613+2T>C
ENST00000696456.1:n.413+2T>C (FANCL)
ENST00000696457.1:c.*1546+2T>C (FANCL) ENSP00000512643.1:n.*1546+2T>C
ENST00000696458.1:c.718+2T>C (FANCL) ENSP00000512644.1:n.718+2T>C
ENST00000696459.1:c.*338+2T>C (FANCL) ENSP00000512645.1:n.*338+2T>C
ENST00000696460.1:n.834T>C (FANCL)
ENST00000696467.1:c.*353+2T>C (FANCL) ENSP00000512648.1:n.*353+2T>C
ENST00000696468.1:c.*267+2T>C (FANCL) ENSP00000512649.1:n.*267+2T>C
ENST00000696469.1:c.790+2T>C (FANCL) ENSP00000512650.1:n.790+2T>C
ENST00000696470.1:n.2505T>C (FANCL)
ENST00000696471.1:n.445+2T>C (FANCL)
ENST00000696472.1:c.790+2T>C (FANCL) ENSP00000512651.1:n.790+2T>C
ENST00000696473.1:c.*458+2T>C (FANCL) ENSP00000512652.1:n.*458+2T>C
ENST00000696474.1:n.697+2T>C (FANCL)
ENST00000696475.1:n.2411+2T>C (FANCL)
ENST00000696492.1:c.*440+2T>C (FANCL) ENSP00000512662.1:n.*440+2T>C
ENST00000696493.1:c.*623+2T>C (FANCL) ENSP00000512663.1:n.*623+2T>C
ENST00000696494.1:n.935+2T>C (FANCL)
ENST00000696495.1:c.*521+2T>C (FANCL) ENSP00000512664.1:n.*521+2T>C
ENST00000696496.1:n.876T>C (FANCL)
ENST00000696497.1:n.4072+2T>C (FANCL)
ENST00000696498.1:n.1662+2T>C (FANCL)
ENST00000696499.1:c.*212+2T>C (FANCL) ENSP00000512665.1:n.*212+2T>C
ENST00000696508.1:c.*338+2T>C (FANCL) ENSP00000512674.1:n.*338+2T>C
ENST00000696509.1:c.*214T>C (FANCL) ENSP00000512675.1:n.*214T>C
ENST00000696510.1:c.248-358T>C (FANCL) ENSP00000512676.1:n.248-358T>C
ENST00000696527.1:c.775+2T>C (FANCL) ENSP00000512690.1:n.775+2T>C
ENST00000696528.1:c.718+2T>C (FANCL) ENSP00000512691.1:n.718+2T>C
ENST00000696529.1:n.638+2T>C (FANCL)
ENST00000696530.1:c.571+2T>C (FANCL) ENSP00000512692.1:n.571+2T>C
ENST00000696531.1:c.*353+2T>C (FANCL) ENSP00000512693.1:n.*353+2T>C
ENST00000696532.1:n.1922+2T>C (FANCL)
ENST00000696542.1:n.275T>C (FANCL)
ENST00000696543.1:c.598+2T>C (FANCL) ENSP00000512703.1:n.598+2T>C
ENST00000696544.1:c.655+2T>C (FANCL) ENSP00000512704.1:n.655+2T>C
ENST00000696545.1:c.*489+2T>C (FANCL) ENSP00000512705.1:n.*489+2T>C
ENST00000696546.1:c.*554+2T>C (FANCL) ENSP00000512706.1:n.*554+2T>C
ENST00000696547.1:c.763+2T>C (FANCL) ENSP00000512707.1:n.763+2T>C
ENST00000696548.1:c.*541T>C (FANCL) ENSP00000512708.1:n.*541T>C
ENST00000696564.1:c.820+2T>C (FANCL) ENSP00000512722.1:n.820+2T>C
ENST00000696565.1:c.835+2T>C (FANCL) ENSP00000512723.1:n.835+2T>C
ENST00000696566.1:n.2925T>C (FANCL)
ENST00000696567.1:c.775+2T>C (FANCL) ENSP00000512724.1:n.775+2T>C
ENST00000696569.1:n.803+2T>C (FANCL)
ENST00000696570.1:c.*225+2T>C (FANCL) ENSP00000512725.1:n.*225+2T>C
ENST00000696619.1:n.1893T>C (FANCL)
ENST00000696620.1:c.368-358T>C (FANCL) ENSP00000512759.1:n.368-358T>C
ENST00000696621.1:c.692-485T>C (FANCL) ENSP00000512760.1:n.692-485T>C
ENST00000696622.1:n.841T>C (FANCL)
ENST00000696623.1:n.660+2T>C (FANCL)
ENST00000696624.1:c.707-358T>C (FANCL) ENSP00000512761.1:n.707-358T>C
ENST00000696625.1:c.*225+2T>C (FANCL) ENSP00000512762.1:n.*225+2T>C
ENST00000696634.1:c.488+2T>C (FANCL) ENSP00000512770.1:n.488+2T>C
ENST00000696635.1:c.751+2T>C (FANCL) ENSP00000512771.1:n.751+2T>C
ENST00000696636.1:n.1562T>C (FANCL)
ENST00000696637.1:n.7410T>C (FANCL)
ENST00000696638.1:n.790+2T>C (FANCL)
ENST00000696639.1:n.2415T>C (FANCL)
XM_005264395.2:c.775+2T>C (FANCL) XP_005264452.1:n.775+2T>C
XM_005264395.4:c.775+2T>C (FANCL) XP_005264452.1:n.775+2T>C
XM_005264397.3:c.424+2T>C (FANCL) XP_005264454.1:n.424+2T>C
XM_006712092.4:c.*3739A>G (VRK2) XP_006712155.1:n.*3739A>G
XM_006712093.4:c.*3739A>G (VRK2) XP_006712156.1:n.*3739A>G
XM_011532939.1:c.835+2T>C (FANCL) XP_011531241.1:n.835+2T>C
XM_011532939.3:c.835+2T>C (FANCL) XP_011531241.1:n.835+2T>C
XM_011532940.1:c.820+2T>C (FANCL) XP_011531242.1:n.820+2T>C
XM_011532940.3:c.820+2T>C (FANCL) XP_011531242.1:n.820+2T>C
XM_011532941.1:c.835+2T>C (FANCL) XP_011531243.1:n.835+2T>C
XM_011532941.2:c.835+2T>C (FANCL) XP_011531243.1:n.835+2T>C
XM_011532942.1:c.790+2T>C (FANCL) XP_011531244.1:n.790+2T>C
XM_011532942.3:c.790+2T>C (FANCL) XP_011531244.1:n.790+2T>C
XM_011532943.1:c.1036+2T>C (FANCL) XP_011531245.1:n.1036+2T>C
XM_011532944.1:c.484+2T>C (FANCL) XP_011531246.1:n.484+2T>C
XM_011532944.2:c.484+2T>C (FANCL) XP_011531246.1:n.484+2T>C
XM_011532945.1:c.439+2T>C (FANCL) XP_011531247.1:n.439+2T>C
XM_011532945.2:c.439+2T>C (FANCL) XP_011531247.1:n.439+2T>C
XM_017004414.2:c.820+2T>C (FANCL) XP_016859903.1:n.820+2T>C
XM_017004416.1:c.424+2T>C (FANCL) XP_016859905.1:n.424+2T>C
XM_017004859.2:c.*3739A>G (VRK2) XP_016860348.1:n.*3739A>G
XM_017004860.2:c.*3739A>G (VRK2) XP_016860349.1:n.*3739A>G
XM_017004861.2:c.*3739A>G (VRK2) XP_016860350.1:n.*3739A>G
XM_017004862.2:c.*3739A>G (VRK2) XP_016860351.1:n.*3739A>G
XM_017004863.2:c.*3739A>G (VRK2) XP_016860352.1:n.*3739A>G
XM_017004864.2:c.*4116A>G (VRK2) XP_016860353.1:n.*4116A>G
XM_017004865.1:c.*4124A>G (VRK2) XP_016860354.1:n.*4124A>G
XM_017004866.1:c.*4124A>G (VRK2) XP_016860355.1:n.*4124A>G
XR_001738802.2:n.849+2T>C (FANCL)
XR_001738803.2:n.834+2T>C (FANCL)
XR_002959309.1:n.979T>C (FANCL)
XR_939692.1:n.902+2T>C (FANCL)
XR_939692.2:n.894+2T>C (FANCL)