Canonical Allele Identifier: CA48351297
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI

Linked Data

dbSNP Id: rs971152606
gnomAD v2: 2-58387274-ATGT-A
gnomAD v3: 2-58160139-ATGT-A
gnomAD v4: 2-58160139-ATGT-A
MyVariant Identifiers: chr2:g.58387275_58387277del (hg19) chr2:g.58160140_58160142del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160141_58160143del , CM000664.2:g.58160141_58160143del GRCh38
NC_000002.11:g.58387276_58387278del , CM000664.1:g.58387276_58387278del GRCh37
NC_000002.10:g.58240780_58240782del NCBI36
NG_007418.1:g.86238_86240del , LRG_501:g.86238_86240del
NG_029717.2:g.257401_257403del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1073_1075del (FANCL) ENSP00000385021.3:p.Asn358del
ENST00000403295.8:c.974_976del (FANCL) ENSP00000386097.3:p.Asn325del
ENST00000403676.6:c.*621_*623del (FANCL) ENSP00000384046.2:n.*621_*623del
ENST00000417361.2:c.*636_*638del (FANCL) ENSP00000389448.2:n.*636_*638del
ENST00000427708.7:c.1103_1105del (FANCL) ENSP00000400969.3:p.Asn368del
ENST00000446381.6:c.614_616del (FANCL) ENSP00000390991.2:p.Asn205del
ENST00000449070.6:c.881_883del (FANCL) ENSP00000401280.2:p.Asn294del
ENST00000470506.2:n.1572_1574del (FANCL)
ENST00000696305.1:c.1001_1003del (FANCL) ENSP00000512543.1:p.Asn334del
ENST00000696306.1:c.*948_*950del (FANCL) ENSP00000512544.1:n.*948_*950del
ENST00000696307.1:c.1043_1045del (FANCL) ENSP00000512545.1:p.Asn348del
ENST00000696314.1:c.*111_*113del (FANCL) ENSP00000512552.1:n.*111_*113del
ENST00000696315.1:c.*621_*623del (FANCL) ENSP00000512553.1:n.*621_*623del
ENST00000696316.1:c.941_943del (FANCL) ENSP00000512554.1:p.Asn314del
ENST00000696317.1:c.*31_*33del (FANCL) ENSP00000512555.1:n.*31_*33del
ENST00000696318.1:c.*111_*113del (FANCL) ENSP00000512556.1:n.*111_*113del
ENST00000696319.1:c.1016_1018del (FANCL) ENSP00000512557.1:p.Asn339del
ENST00000696320.1:n.2737_2739del (FANCL)
ENST00000696324.1:c.*508_*510del (FANCL) ENSP00000512561.1:n.*508_*510del
ENST00000696325.1:n.4141_4143del (FANCL)
ENST00000696326.1:c.1118_1120del (FANCL) ENSP00000512562.1:p.Asn373del
ENST00000696338.1:n.1172_1174del (FANCL)
ENST00000696339.1:n.2630_2632del (FANCL)
ENST00000696340.1:n.3284_3286del (FANCL)
ENST00000696341.1:n.1566_1568del (FANCL)
ENST00000696342.1:c.*2288_*2290del (FANCL) ENSP00000512569.1:n.*2288_*2290del
ENST00000696343.1:n.2917_2919del (FANCL)
ENST00000696344.1:c.*772_*774del (FANCL) ENSP00000512570.1:n.*772_*774del
ENST00000696358.1:n.3731_3733del (FANCL)
ENST00000696359.1:n.3408_3410del (FANCL)
ENST00000696360.1:n.1843_1845del (FANCL)
ENST00000696361.1:c.*1061_*1063del (FANCL) ENSP00000512579.1:n.*1061_*1063del
ENST00000696362.1:c.*508_*510del (FANCL) ENSP00000512580.1:n.*508_*510del
ENST00000696363.1:n.2835_2837del (FANCL)
ENST00000696364.1:n.1451_1453del (FANCL)
ENST00000696371.1:c.1049_1051del (FANCL) ENSP00000512586.1:p.Asn350del
ENST00000696372.1:n.2147_2149del (FANCL)
ENST00000696373.1:c.*2288_*2290del (FANCL) ENSP00000512587.1:n.*2288_*2290del
ENST00000696374.1:c.*426_*428del (FANCL) ENSP00000512588.1:n.*426_*428del
ENST00000696375.1:n.7991_7993del (FANCL)
ENST00000696376.1:n.6844_6846del (FANCL)
ENST00000696378.1:c.*1076_*1078del (FANCL) ENSP00000512589.1:n.*1076_*1078del
ENST00000696394.1:n.4560_4562del (FANCL)
ENST00000696395.1:n.4499_4501del (FANCL)
ENST00000696396.1:n.2212_2214del (FANCL)
ENST00000696397.1:n.3183_3185del (FANCL)
ENST00000696398.1:c.*205_*207del (FANCL) ENSP00000512604.1:n.*205_*207del
ENST00000696399.1:n.2332_2334del (FANCL)
ENST00000696400.1:c.*822_*824del (FANCL) ENSP00000512605.1:n.*822_*824del
ENST00000696409.1:c.*575_*577del (FANCL) ENSP00000512610.1:n.*575_*577del
ENST00000696410.1:c.*539_*541del (FANCL) ENSP00000512611.1:n.*539_*541del
ENST00000696411.1:n.763_765del (FANCL)
ENST00000696412.1:n.1557_1559del (FANCL)
ENST00000696413.1:n.1060_1062del (FANCL)
ENST00000696414.1:n.2104_2106del (FANCL)
ENST00000696415.1:c.*31_*33del (FANCL) ENSP00000512612.1:n.*31_*33del
ENST00000696416.1:n.1066_1068del (FANCL)
ENST00000696432.1:n.3517_3519del (FANCL)
ENST00000696433.1:c.*111_*113del (FANCL) ENSP00000512627.1:n.*111_*113del
ENST00000696434.1:c.896_898del (FANCL) ENSP00000512628.1:p.Asn299del
ENST00000696435.1:c.*205_*207del (FANCL) ENSP00000512629.1:n.*205_*207del
ENST00000696436.1:n.1012_1014del (FANCL)
ENST00000696437.1:n.1475_1477del (FANCL)
ENST00000696438.1:c.*891_*893del (FANCL) ENSP00000512630.1:n.*891_*893del
ENST00000696439.1:n.3107_3109del (FANCL)
ENST00000696440.1:n.2094_2096del (FANCL)
ENST00000696454.1:c.*409_*411del (FANCL) ENSP00000512641.1:n.*409_*411del
ENST00000696455.1:c.*111_*113del (FANCL) ENSP00000512642.1:n.*111_*113del
ENST00000696456.1:n.568_570del (FANCL)
ENST00000696457.1:c.*1829_*1831del (FANCL) ENSP00000512643.1:n.*1829_*1831del
ENST00000696458.1:c.*31_*33del (FANCL) ENSP00000512644.1:n.*31_*33del
ENST00000696459.1:c.*493_*495del (FANCL) ENSP00000512645.1:n.*493_*495del
ENST00000696460.1:n.1555_1557del (FANCL)
ENST00000696467.1:c.*554_*556del (FANCL) ENSP00000512648.1:n.*554_*556del
ENST00000696468.1:c.*550_*552del (FANCL) ENSP00000512649.1:n.*550_*552del
ENST00000696469.1:c.*205_*207del (FANCL) ENSP00000512650.1:n.*205_*207del
ENST00000696470.1:n.3226_3228del (FANCL)
ENST00000696471.1:n.728_730del (FANCL)
ENST00000696472.1:c.*111_*113del (FANCL) ENSP00000512651.1:n.*111_*113del
ENST00000696473.1:c.*741_*743del (FANCL) ENSP00000512652.1:n.*741_*743del
ENST00000696474.1:n.934_936del (FANCL)
ENST00000696475.1:n.2566_2568del (FANCL)
ENST00000696492.1:c.*723_*725del (FANCL) ENSP00000512662.1:n.*723_*725del
ENST00000696493.1:c.*906_*908del (FANCL) ENSP00000512663.1:n.*906_*908del
ENST00000696494.1:n.1090_1092del (FANCL)
ENST00000696495.1:c.*804_*806del (FANCL) ENSP00000512664.1:n.*804_*806del
ENST00000696496.1:n.1597_1599del (FANCL)
ENST00000696497.1:n.4355_4357del (FANCL)
ENST00000696498.1:n.1817_1819del (FANCL)
ENST00000696499.1:c.*495_*497del (FANCL) ENSP00000512665.1:n.*495_*497del
ENST00000696508.1:c.*613_*615del (FANCL) ENSP00000512674.1:n.*613_*615del
ENST00000696509.1:c.*935_*937del (FANCL) ENSP00000512675.1:n.*935_*937del
ENST00000696510.1:c.530_532del (FANCL) ENSP00000512676.1:p.Asn177del
ENST00000696527.1:c.*111_*113del (FANCL) ENSP00000512690.1:n.*111_*113del
ENST00000696528.1:c.*111_*113del (FANCL) ENSP00000512691.1:n.*111_*113del
ENST00000696529.1:n.921_923del (FANCL)
ENST00000696530.1:c.854_856del (FANCL) ENSP00000512692.1:p.Asn285del
ENST00000696531.1:c.*590_*592del (FANCL) ENSP00000512693.1:n.*590_*592del
ENST00000696532.1:n.2205_2207del (FANCL)
ENST00000696542.1:n.996_998del (FANCL)
ENST00000696543.1:c.*111_*113del (FANCL) ENSP00000512703.1:n.*111_*113del
ENST00000696544.1:c.*111_*113del (FANCL) ENSP00000512704.1:n.*111_*113del
ENST00000696545.1:c.*726_*728del (FANCL) ENSP00000512705.1:n.*726_*728del
ENST00000696546.1:c.*837_*839del (FANCL) ENSP00000512706.1:n.*837_*839del
ENST00000696547.1:c.1046_1048del (FANCL) ENSP00000512707.1:p.Asn349del
ENST00000696548.1:c.*1262_*1264del (FANCL) ENSP00000512708.1:n.*1262_*1264del
ENST00000696564.1:c.*111_*113del (FANCL) ENSP00000512722.1:n.*111_*113del
ENST00000696565.1:c.*111_*113del (FANCL) ENSP00000512723.1:n.*111_*113del
ENST00000696566.1:n.3646_3648del (FANCL)
ENST00000696567.1:c.953_955del (FANCL) ENSP00000512724.1:p.Asn318del
ENST00000696568.1:n.484_486del (FANCL)
ENST00000696569.1:n.1167_1169del (FANCL)
ENST00000696570.1:c.*380_*382del (FANCL) ENSP00000512725.1:n.*380_*382del
ENST00000696619.1:n.2614_2616del (FANCL)
ENST00000696620.1:c.650_652del (FANCL) ENSP00000512759.1:p.Asn217del
ENST00000696621.1:c.*205_*207del (FANCL) ENSP00000512760.1:n.*205_*207del
ENST00000696622.1:n.2789_2791del (FANCL)
ENST00000696623.1:n.1024_1026del (FANCL)
ENST00000696624.1:c.989_991del (FANCL) ENSP00000512761.1:p.Asn330del
ENST00000696625.1:c.*508_*510del (FANCL) ENSP00000512762.1:n.*508_*510del
ENST00000696634.1:c.771_773del (FANCL) ENSP00000512770.1:n.771_773del
ENST00000696635.1:c.1034_1036del (FANCL) ENSP00000512771.1:p.Asn345del
ENST00000696636.1:n.3510_3512del (FANCL)
ENST00000696637.1:n.8131_8133del (FANCL)
ENST00000696638.1:n.1073_1075del (FANCL)
ENST00000696639.1:n.3136_3138del (FANCL)
ENST00000233741.9:c.1058_1060del (FANCL) MANE Select ENSP00000233741.5:p.Asn353del
ENST00000233741.8:c.1058_1060del (FANCL) ENSP00000233741.4:p.Asn353del
ENST00000402135.7:c.1073_1075del (FANCL) ENSP00000385021.3:p.Asn358del
ENST00000403295.7:c.974_976del (FANCL) ENSP00000386097.3:p.Asn325del
ENST00000403676.5:c.707_709del (FANCL) ENSP00000384046.1:p.Asn236del
ENST00000449070.5:c.881_883del (FANCL) ENSP00000401280.1:p.Asn294del
NM_001114636.1:c.1073_1075del , LRG_501t1:c.1073_1075del (FANCL) NP_001108108.1:p.Asn358del
NM_018062.3:c.1058_1060del , LRG_501t2:c.1058_1060del (FANCL) NP_060532.2:p.Asn353del
XM_005264395.2:c.1058_1060del (FANCL) XP_005264452.1:p.Asn353del
XM_005264397.3:c.707_709del (FANCL) XP_005264454.1:p.Asn236del
XM_011532939.1:c.1118_1120del (FANCL) XP_011531241.1:p.Asn373del
XM_011532940.1:c.1103_1105del (FANCL) XP_011531242.1:p.Asn368del
XM_011532941.1:c.1118_1120del (FANCL) XP_011531243.1:p.Asn373del
XM_011532942.1:c.1073_1075del (FANCL) XP_011531244.1:p.Asn358del
XM_011532943.1:c.1319_1321del (FANCL) XP_011531245.1:p.Asn440del
XM_011532944.1:c.767_769del (FANCL) XP_011531246.1:p.Asn256del
XM_011532945.1:c.722_724del (FANCL) XP_011531247.1:p.Asn241del
XR_939692.1:n.1057_1059del (FANCL)
NR_156742.1:n.847_849del (FANCL)
XM_005264395.4:c.1058_1060del (FANCL) XP_005264452.1:p.Asn353del
XM_005264540.4:c.*448_*450del (VRK2) XP_005264597.1:n.*448_*450del
XM_006712090.4:c.*825_*827del (VRK2) XP_006712153.1:n.*825_*827del
XM_006712092.4:c.*448_*450del (VRK2) XP_006712155.1:n.*448_*450del
XM_006712093.4:c.*448_*450del (VRK2) XP_006712156.1:n.*448_*450del
XM_011532939.3:c.1118_1120del (FANCL) XP_011531241.1:p.Asn373del
XM_011532940.3:c.1103_1105del (FANCL) XP_011531242.1:p.Asn368del
XM_011532941.2:c.1118_1120del (FANCL) XP_011531243.1:p.Asn373del
XM_011532942.3:c.1073_1075del (FANCL) XP_011531244.1:p.Asn358del
XM_011532944.2:c.767_769del (FANCL) XP_011531246.1:p.Asn256del
XM_011532945.2:c.722_724del (FANCL) XP_011531247.1:p.Asn241del
XM_011533092.3:c.*448_*450del (VRK2) XP_011531394.1:n.*448_*450del
XM_017004414.2:c.1103_1105del (FANCL) XP_016859903.1:p.Asn368del
XM_017004416.1:c.707_709del (FANCL) XP_016859905.1:p.Asn236del
XM_017004858.2:c.*825_*827del (VRK2) XP_016860347.1:n.*825_*827del
XM_017004859.2:c.*448_*450del (VRK2) XP_016860348.1:n.*448_*450del
XM_017004860.2:c.*448_*450del (VRK2) XP_016860349.1:n.*448_*450del
XM_017004861.2:c.*448_*450del (VRK2) XP_016860350.1:n.*448_*450del
XM_017004862.2:c.*448_*450del (VRK2) XP_016860351.1:n.*448_*450del
XM_017004863.2:c.*448_*450del (VRK2) XP_016860352.1:n.*448_*450del
XM_017004864.2:c.*825_*827del (VRK2) XP_016860353.1:n.*825_*827del
XM_017004865.1:c.*833_*835del (VRK2) XP_016860354.1:n.*833_*835del
XM_017004866.1:c.*833_*835del (VRK2) XP_016860355.1:n.*833_*835del
XR_001738802.2:n.1004_1006del (FANCL)
XR_001738803.2:n.989_991del (FANCL)
XR_002959309.1:n.1700_1702del (FANCL)
XR_939692.2:n.1049_1051del (FANCL)
NM_001374615.1:c.1103_1105del (FANCL) NP_001361544.1:p.Asn368del
NM_018062.4:c.1058_1060del (FANCL) MANE Select NP_060532.2:p.Asn353del
NR_164659.1:n.939_941del (FANCL)
Search 100 bp 5'
Search 100 bp 3'