Canonical Allele Identifier: CA48351680

Gene: FANCL VRK2

Linked Data

• dbSNP Id: rs757216388
• gnomAD v2: 2-58387481-C-CTATT
• gnomAD v3: 2-58160346-C-CTATT
• gnomAD v4: 2-58160346-C-CTATT
• MyVariant Identifiers: chr2:g.58387481_58387482insTATT (hg19) ; chr2:g.58160346_58160347insTATT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.58160347_58160350dup , CM000664.2:g.58160347_58160350dup	GRCh38
NC_000002.11:g.58387482_58387485dup , CM000664.1:g.58387482_58387485dup	GRCh37
NC_000002.10:g.58240986_58240989dup	NCBI36
NG_007418.1:g.86030_86033dup , LRG_501:g.86030_86033dup
NG_029717.2:g.257607_257610dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000402135.8:c.1036-171_1036-168dup (FANCL)	ENSP00000385021.3:n.1036-171_1036-168dup
ENST00000403295.8:c.937-171_937-168dup (FANCL)	ENSP00000386097.3:n.937-171_937-168dup
ENST00000403676.6:c.*584-171_*584-168dup (FANCL)	ENSP00000384046.2:n.*584-171_*584-168dup
ENST00000417361.2:c.*599-171_*599-168dup (FANCL)	ENSP00000389448.2:n.*599-171_*599-168dup
ENST00000427708.7:c.1066-171_1066-168dup (FANCL)	ENSP00000400969.3:n.1066-171_1066-168dup
ENST00000446381.6:c.577-171_577-168dup (FANCL)	ENSP00000390991.2:n.577-171_577-168dup
ENST00000449070.6:c.844-171_844-168dup (FANCL)	ENSP00000401280.2:n.844-171_844-168dup
ENST00000470506.2:n.1535-171_1535-168dup (FANCL)
ENST00000696305.1:c.964-171_964-168dup (FANCL)	ENSP00000512543.1:n.964-171_964-168dup
ENST00000696306.1:c.*911-171_*911-168dup (FANCL)	ENSP00000512544.1:n.*911-171_*911-168dup
ENST00000696307.1:c.1006-171_1006-168dup (FANCL)	ENSP00000512545.1:n.1006-171_1006-168dup
ENST00000696314.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512552.1:n.*74-171_*74-168dup
ENST00000696315.1:c.*584-171_*584-168dup (FANCL)	ENSP00000512553.1:n.*584-171_*584-168dup
ENST00000696316.1:c.904-171_904-168dup (FANCL)	ENSP00000512554.1:n.904-171_904-168dup
ENST00000696317.1:c.939-171_939-168dup (FANCL)	ENSP00000512555.1:n.939-171_939-168dup
ENST00000696318.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512556.1:n.*74-171_*74-168dup
ENST00000696319.1:c.979-171_979-168dup (FANCL)	ENSP00000512557.1:n.979-171_979-168dup
ENST00000696320.1:n.2700-171_2700-168dup (FANCL)
ENST00000696324.1:c.*471-171_*471-168dup (FANCL)	ENSP00000512561.1:n.*471-171_*471-168dup
ENST00000696325.1:n.4104-171_4104-168dup (FANCL)
ENST00000696326.1:c.1081-171_1081-168dup (FANCL)	ENSP00000512562.1:n.1081-171_1081-168dup
ENST00000696338.1:n.1135-171_1135-168dup (FANCL)
ENST00000696339.1:n.2593-171_2593-168dup (FANCL)
ENST00000696340.1:n.3247-171_3247-168dup (FANCL)
ENST00000696341.1:n.1529-171_1529-168dup (FANCL)
ENST00000696342.1:c.*2251-171_*2251-168dup (FANCL)	ENSP00000512569.1:n.*2251-171_*2251-168dup
ENST00000696343.1:n.2880-171_2880-168dup (FANCL)
ENST00000696344.1:c.*735-171_*735-168dup (FANCL)	ENSP00000512570.1:n.*735-171_*735-168dup
ENST00000696358.1:n.3694-171_3694-168dup (FANCL)
ENST00000696359.1:n.3371-171_3371-168dup (FANCL)
ENST00000696360.1:n.1806-171_1806-168dup (FANCL)
ENST00000696361.1:c.*1024-171_*1024-168dup (FANCL)	ENSP00000512579.1:n.*1024-171_*1024-168dup
ENST00000696362.1:c.*471-171_*471-168dup (FANCL)	ENSP00000512580.1:n.*471-171_*471-168dup
ENST00000696363.1:n.2798-171_2798-168dup (FANCL)
ENST00000696364.1:n.1414-171_1414-168dup (FANCL)
ENST00000696371.1:c.1012-171_1012-168dup (FANCL)	ENSP00000512586.1:n.1012-171_1012-168dup
ENST00000696372.1:n.2110-171_2110-168dup (FANCL)
ENST00000696373.1:c.*2251-171_*2251-168dup (FANCL)	ENSP00000512587.1:n.*2251-171_*2251-168dup
ENST00000696374.1:c.*389-171_*389-168dup (FANCL)	ENSP00000512588.1:n.*389-171_*389-168dup
ENST00000696375.1:n.7954-171_7954-168dup (FANCL)
ENST00000696376.1:n.6807-171_6807-168dup (FANCL)
ENST00000696378.1:c.*1039-171_*1039-168dup (FANCL)	ENSP00000512589.1:n.*1039-171_*1039-168dup
ENST00000696394.1:n.4523-171_4523-168dup (FANCL)
ENST00000696395.1:n.4462-171_4462-168dup (FANCL)
ENST00000696396.1:n.2175-171_2175-168dup (FANCL)
ENST00000696397.1:n.3146-171_3146-168dup (FANCL)
ENST00000696398.1:c.*168-171_*168-168dup (FANCL)	ENSP00000512604.1:n.*168-171_*168-168dup
ENST00000696399.1:n.2295-171_2295-168dup (FANCL)
ENST00000696400.1:c.*785-171_*785-168dup (FANCL)	ENSP00000512605.1:n.*785-171_*785-168dup
ENST00000696409.1:c.*538-171_*538-168dup (FANCL)	ENSP00000512610.1:n.*538-171_*538-168dup
ENST00000696410.1:c.*502-171_*502-168dup (FANCL)	ENSP00000512611.1:n.*502-171_*502-168dup
ENST00000696411.1:n.726-171_726-168dup (FANCL)
ENST00000696412.1:n.1520-171_1520-168dup (FANCL)
ENST00000696413.1:n.1023-171_1023-168dup (FANCL)
ENST00000696414.1:n.2067-171_2067-168dup (FANCL)
ENST00000696415.1:c.954-171_954-168dup (FANCL)	ENSP00000512612.1:n.954-171_954-168dup
ENST00000696416.1:n.1029-171_1029-168dup (FANCL)
ENST00000696432.1:n.3480-171_3480-168dup (FANCL)
ENST00000696433.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512627.1:n.*74-171_*74-168dup
ENST00000696434.1:c.859-171_859-168dup (FANCL)	ENSP00000512628.1:n.859-171_859-168dup
ENST00000696435.1:c.*168-171_*168-168dup (FANCL)	ENSP00000512629.1:n.*168-171_*168-168dup
ENST00000696436.1:n.975-171_975-168dup (FANCL)
ENST00000696437.1:n.1438-171_1438-168dup (FANCL)
ENST00000696438.1:c.*854-171_*854-168dup (FANCL)	ENSP00000512630.1:n.*854-171_*854-168dup
ENST00000696439.1:n.3070-171_3070-168dup (FANCL)
ENST00000696440.1:n.2057-171_2057-168dup (FANCL)
ENST00000696454.1:c.*372-171_*372-168dup (FANCL)	ENSP00000512641.1:n.*372-171_*372-168dup
ENST00000696455.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512642.1:n.*74-171_*74-168dup
ENST00000696456.1:n.531-171_531-168dup (FANCL)
ENST00000696457.1:c.*1792-171_*1792-168dup (FANCL)	ENSP00000512643.1:n.*1792-171_*1792-168dup
ENST00000696458.1:c.882-171_882-168dup (FANCL)	ENSP00000512644.1:n.882-171_882-168dup
ENST00000696459.1:c.*456-171_*456-168dup (FANCL)	ENSP00000512645.1:n.*456-171_*456-168dup
ENST00000696460.1:n.1518-171_1518-168dup (FANCL)
ENST00000696467.1:c.*517-171_*517-168dup (FANCL)	ENSP00000512648.1:n.*517-171_*517-168dup
ENST00000696468.1:c.*513-171_*513-168dup (FANCL)	ENSP00000512649.1:n.*513-171_*513-168dup
ENST00000696469.1:c.*168-171_*168-168dup (FANCL)	ENSP00000512650.1:n.*168-171_*168-168dup
ENST00000696470.1:n.3189-171_3189-168dup (FANCL)
ENST00000696471.1:n.691-171_691-168dup (FANCL)
ENST00000696472.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512651.1:n.*74-171_*74-168dup
ENST00000696473.1:c.*704-171_*704-168dup (FANCL)	ENSP00000512652.1:n.*704-171_*704-168dup
ENST00000696474.1:n.897-171_897-168dup (FANCL)
ENST00000696475.1:n.2529-171_2529-168dup (FANCL)
ENST00000696492.1:c.*686-171_*686-168dup (FANCL)	ENSP00000512662.1:n.*686-171_*686-168dup
ENST00000696493.1:c.*869-171_*869-168dup (FANCL)	ENSP00000512663.1:n.*869-171_*869-168dup
ENST00000696494.1:n.1053-171_1053-168dup (FANCL)
ENST00000696495.1:c.*767-171_*767-168dup (FANCL)	ENSP00000512664.1:n.*767-171_*767-168dup
ENST00000696496.1:n.1560-171_1560-168dup (FANCL)
ENST00000696497.1:n.4318-171_4318-168dup (FANCL)
ENST00000696498.1:n.1780-171_1780-168dup (FANCL)
ENST00000696499.1:c.*458-171_*458-168dup (FANCL)	ENSP00000512665.1:n.*458-171_*458-168dup
ENST00000696508.1:c.*576-171_*576-168dup (FANCL)	ENSP00000512674.1:n.*576-171_*576-168dup
ENST00000696509.1:c.*898-171_*898-168dup (FANCL)	ENSP00000512675.1:n.*898-171_*898-168dup
ENST00000696510.1:c.493-171_493-168dup (FANCL)	ENSP00000512676.1:n.493-171_493-168dup
ENST00000696527.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512690.1:n.*74-171_*74-168dup
ENST00000696528.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512691.1:n.*74-171_*74-168dup
ENST00000696529.1:n.884-171_884-168dup (FANCL)
ENST00000696530.1:c.817-171_817-168dup (FANCL)	ENSP00000512692.1:n.817-171_817-168dup
ENST00000696531.1:c.*553-171_*553-168dup (FANCL)	ENSP00000512693.1:n.*553-171_*553-168dup
ENST00000696532.1:n.2168-171_2168-168dup (FANCL)
ENST00000696542.1:n.959-171_959-168dup (FANCL)
ENST00000696543.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512703.1:n.*74-171_*74-168dup
ENST00000696544.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512704.1:n.*74-171_*74-168dup
ENST00000696545.1:c.*689-171_*689-168dup (FANCL)	ENSP00000512705.1:n.*689-171_*689-168dup
ENST00000696546.1:c.*800-171_*800-168dup (FANCL)	ENSP00000512706.1:n.*800-171_*800-168dup
ENST00000696547.1:c.1009-171_1009-168dup (FANCL)	ENSP00000512707.1:n.1009-171_1009-168dup
ENST00000696548.1:c.*1225-171_*1225-168dup (FANCL)	ENSP00000512708.1:n.*1225-171_*1225-168dup
ENST00000696564.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512722.1:n.*74-171_*74-168dup
ENST00000696565.1:c.*74-171_*74-168dup (FANCL)	ENSP00000512723.1:n.*74-171_*74-168dup
ENST00000696566.1:n.3609-171_3609-168dup (FANCL)
ENST00000696567.1:c.916-171_916-168dup (FANCL)	ENSP00000512724.1:n.916-171_916-168dup
ENST00000696568.1:n.276_279dup (FANCL)
ENST00000696569.1:n.1130-171_1130-168dup (FANCL)
ENST00000696570.1:c.*343-171_*343-168dup (FANCL)	ENSP00000512725.1:n.*343-171_*343-168dup
ENST00000696619.1:n.2577-171_2577-168dup (FANCL)
ENST00000696620.1:c.613-171_613-168dup (FANCL)	ENSP00000512759.1:n.613-171_613-168dup
ENST00000696621.1:c.*168-171_*168-168dup (FANCL)	ENSP00000512760.1:n.*168-171_*168-168dup
ENST00000696622.1:n.2752-171_2752-168dup (FANCL)
ENST00000696623.1:n.987-171_987-168dup (FANCL)
ENST00000696624.1:c.952-171_952-168dup (FANCL)	ENSP00000512761.1:n.952-171_952-168dup
ENST00000696625.1:c.*471-171_*471-168dup (FANCL)	ENSP00000512762.1:n.*471-171_*471-168dup
ENST00000696634.1:c.734-171_734-168dup (FANCL)	ENSP00000512770.1:n.734-171_734-168dup
ENST00000696635.1:c.997-171_997-168dup (FANCL)	ENSP00000512771.1:n.997-171_997-168dup
ENST00000696636.1:n.3473-171_3473-168dup (FANCL)
ENST00000696637.1:n.8094-171_8094-168dup (FANCL)
ENST00000696638.1:n.1036-171_1036-168dup (FANCL)
ENST00000696639.1:n.3099-171_3099-168dup (FANCL)
ENST00000233741.9:c.1021-171_1021-168dup (FANCL) MANE Select	ENSP00000233741.5:n.1021-171_1021-168dup
ENST00000233741.8:c.1021-171_1021-168dup (FANCL)	ENSP00000233741.4:n.1021-171_1021-168dup
ENST00000402135.7:c.1036-171_1036-168dup (FANCL)	ENSP00000385021.3:n.1036-171_1036-168dup
ENST00000403295.7:c.937-171_937-168dup (FANCL)	ENSP00000386097.3:n.937-171_937-168dup
ENST00000403676.5:c.670-171_670-168dup (FANCL)	ENSP00000384046.1:n.670-171_670-168dup
ENST00000449070.5:c.844-171_844-168dup (FANCL)	ENSP00000401280.1:n.844-171_844-168dup
NM_001114636.1:c.1036-171_1036-168dup , LRG_501t1:c.1036-171_1036-168dup (FANCL)	NP_001108108.1:n.1036-171_1036-168dup
NM_018062.3:c.1021-171_1021-168dup , LRG_501t2:c.1021-171_1021-168dup (FANCL)	NP_060532.2:n.1021-171_1021-168dup
XM_005264395.2:c.1021-171_1021-168dup (FANCL)	XP_005264452.1:n.1021-171_1021-168dup
XM_005264397.3:c.670-171_670-168dup (FANCL)	XP_005264454.1:n.670-171_670-168dup
XM_011532939.1:c.1081-171_1081-168dup (FANCL)	XP_011531241.1:n.1081-171_1081-168dup
XM_011532940.1:c.1066-171_1066-168dup (FANCL)	XP_011531242.1:n.1066-171_1066-168dup
XM_011532941.1:c.1081-171_1081-168dup (FANCL)	XP_011531243.1:n.1081-171_1081-168dup
XM_011532942.1:c.1036-171_1036-168dup (FANCL)	XP_011531244.1:n.1036-171_1036-168dup
XM_011532943.1:c.1282-171_1282-168dup (FANCL)	XP_011531245.1:n.1282-171_1282-168dup
XM_011532944.1:c.730-171_730-168dup (FANCL)	XP_011531246.1:n.730-171_730-168dup
XM_011532945.1:c.685-171_685-168dup (FANCL)	XP_011531247.1:n.685-171_685-168dup
XR_939692.1:n.1020-171_1020-168dup (FANCL)
NR_156742.1:n.810-171_810-168dup (FANCL)
XM_005264395.4:c.1021-171_1021-168dup (FANCL)	XP_005264452.1:n.1021-171_1021-168dup
XM_005264540.4:c.*654_*657dup (VRK2)	XP_005264597.1:n.*654_*657dup
XM_006712090.4:c.*1031_*1034dup (VRK2)	XP_006712153.1:n.*1031_*1034dup
XM_006712092.4:c.*654_*657dup (VRK2)	XP_006712155.1:n.*654_*657dup
XM_006712093.4:c.*654_*657dup (VRK2)	XP_006712156.1:n.*654_*657dup
XM_011532939.3:c.1081-171_1081-168dup (FANCL)	XP_011531241.1:n.1081-171_1081-168dup
XM_011532940.3:c.1066-171_1066-168dup (FANCL)	XP_011531242.1:n.1066-171_1066-168dup
XM_011532941.2:c.1081-171_1081-168dup (FANCL)	XP_011531243.1:n.1081-171_1081-168dup
XM_011532942.3:c.1036-171_1036-168dup (FANCL)	XP_011531244.1:n.1036-171_1036-168dup
XM_011532944.2:c.730-171_730-168dup (FANCL)	XP_011531246.1:n.730-171_730-168dup
XM_011532945.2:c.685-171_685-168dup (FANCL)	XP_011531247.1:n.685-171_685-168dup
XM_011533092.3:c.*654_*657dup (VRK2)	XP_011531394.1:n.*654_*657dup
XM_017004414.2:c.1066-171_1066-168dup (FANCL)	XP_016859903.1:n.1066-171_1066-168dup
XM_017004416.1:c.670-171_670-168dup (FANCL)	XP_016859905.1:n.670-171_670-168dup
XM_017004858.2:c.*1031_*1034dup (VRK2)	XP_016860347.1:n.*1031_*1034dup
XM_017004859.2:c.*654_*657dup (VRK2)	XP_016860348.1:n.*654_*657dup
XM_017004860.2:c.*654_*657dup (VRK2)	XP_016860349.1:n.*654_*657dup
XM_017004861.2:c.*654_*657dup (VRK2)	XP_016860350.1:n.*654_*657dup
XM_017004862.2:c.*654_*657dup (VRK2)	XP_016860351.1:n.*654_*657dup
XM_017004863.2:c.*654_*657dup (VRK2)	XP_016860352.1:n.*654_*657dup
XM_017004864.2:c.*1031_*1034dup (VRK2)	XP_016860353.1:n.*1031_*1034dup
XM_017004865.1:c.*1039_*1042dup (VRK2)	XP_016860354.1:n.*1039_*1042dup
XM_017004866.1:c.*1039_*1042dup (VRK2)	XP_016860355.1:n.*1039_*1042dup
XR_001738802.2:n.967-171_967-168dup (FANCL)
XR_001738803.2:n.952-171_952-168dup (FANCL)
XR_002959309.1:n.1663-171_1663-168dup (FANCL)
XR_939692.2:n.1012-171_1012-168dup (FANCL)
NM_001374615.1:c.1066-171_1066-168dup (FANCL)	NP_001361544.1:n.1066-171_1066-168dup
NM_018062.4:c.1021-171_1021-168dup (FANCL) MANE Select	NP_060532.2:n.1021-171_1021-168dup
NR_164659.1:n.902-171_902-168dup (FANCL)