Canonical Allele Identifier: CA1670325
Gene: FANCL HGNC NCBI
VRK2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2039117
ClinVar RCV Id: RCV002907801
dbSNP Id: rs763041336
ExAC: 2:58387296 TTAG / T
gnomAD v2: 2-58387296-TTAG-T
gnomAD v4: 2-58160161-TTAG-T
MyVariant Identifiers: chr2:g.58387297_58387299del (hg19) chr2:g.58160162_58160164del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160166_58160168del , CM000664.2:g.58160166_58160168del GRCh38
NC_000002.11:g.58387301_58387303del , CM000664.1:g.58387301_58387303del GRCh37
NC_000002.10:g.58240805_58240807del NCBI36
NG_007418.1:g.86216_86218del , LRG_501:g.86216_86218del
NG_029717.2:g.257426_257428del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1051_1053del (FANCL) ENSP00000385021.3:p.Leu351del
ENST00000403295.8:c.952_954del (FANCL) ENSP00000386097.3:p.Leu318del
ENST00000403676.6:c.*599_*601del (FANCL) ENSP00000384046.2:n.*599_*601del
ENST00000417361.2:c.*614_*616del (FANCL) ENSP00000389448.2:n.*614_*616del
ENST00000427708.7:c.1081_1083del (FANCL) ENSP00000400969.3:p.Leu361del
ENST00000446381.6:c.592_594del (FANCL) ENSP00000390991.2:p.Leu198del
ENST00000449070.6:c.859_861del (FANCL) ENSP00000401280.2:p.Leu287del
ENST00000470506.2:n.1550_1552del (FANCL)
ENST00000696305.1:c.979_981del (FANCL) ENSP00000512543.1:p.Leu327del
ENST00000696306.1:c.*926_*928del (FANCL) ENSP00000512544.1:n.*926_*928del
ENST00000696307.1:c.1021_1023del (FANCL) ENSP00000512545.1:p.Leu341del
ENST00000696314.1:c.*89_*91del (FANCL) ENSP00000512552.1:n.*89_*91del
ENST00000696315.1:c.*599_*601del (FANCL) ENSP00000512553.1:n.*599_*601del
ENST00000696316.1:c.919_921del (FANCL) ENSP00000512554.1:p.Leu307del
ENST00000696317.1:c.*9_*11del (FANCL) ENSP00000512555.1:n.*9_*11del
ENST00000696318.1:c.*89_*91del (FANCL) ENSP00000512556.1:n.*89_*91del
ENST00000696319.1:c.994_996del (FANCL) ENSP00000512557.1:p.Leu332del
ENST00000696320.1:n.2715_2717del (FANCL)
ENST00000696324.1:c.*486_*488del (FANCL) ENSP00000512561.1:n.*486_*488del
ENST00000696325.1:n.4119_4121del (FANCL)
ENST00000696326.1:c.1096_1098del (FANCL) ENSP00000512562.1:p.Leu366del
ENST00000696338.1:n.1150_1152del (FANCL)
ENST00000696339.1:n.2608_2610del (FANCL)
ENST00000696340.1:n.3262_3264del (FANCL)
ENST00000696341.1:n.1544_1546del (FANCL)
ENST00000696342.1:c.*2266_*2268del (FANCL) ENSP00000512569.1:n.*2266_*2268del
ENST00000696343.1:n.2895_2897del (FANCL)
ENST00000696344.1:c.*750_*752del (FANCL) ENSP00000512570.1:n.*750_*752del
ENST00000696358.1:n.3709_3711del (FANCL)
ENST00000696359.1:n.3386_3388del (FANCL)
ENST00000696360.1:n.1821_1823del (FANCL)
ENST00000696361.1:c.*1039_*1041del (FANCL) ENSP00000512579.1:n.*1039_*1041del
ENST00000696362.1:c.*486_*488del (FANCL) ENSP00000512580.1:n.*486_*488del
ENST00000696363.1:n.2813_2815del (FANCL)
ENST00000696364.1:n.1429_1431del (FANCL)
ENST00000696371.1:c.1027_1029del (FANCL) ENSP00000512586.1:p.Leu343del
ENST00000696372.1:n.2125_2127del (FANCL)
ENST00000696373.1:c.*2266_*2268del (FANCL) ENSP00000512587.1:n.*2266_*2268del
ENST00000696374.1:c.*404_*406del (FANCL) ENSP00000512588.1:n.*404_*406del
ENST00000696375.1:n.7969_7971del (FANCL)
ENST00000696376.1:n.6822_6824del (FANCL)
ENST00000696378.1:c.*1054_*1056del (FANCL) ENSP00000512589.1:n.*1054_*1056del
ENST00000696394.1:n.4538_4540del (FANCL)
ENST00000696395.1:n.4477_4479del (FANCL)
ENST00000696396.1:n.2190_2192del (FANCL)
ENST00000696397.1:n.3161_3163del (FANCL)
ENST00000696398.1:c.*183_*185del (FANCL) ENSP00000512604.1:n.*183_*185del
ENST00000696399.1:n.2310_2312del (FANCL)
ENST00000696400.1:c.*800_*802del (FANCL) ENSP00000512605.1:n.*800_*802del
ENST00000696409.1:c.*553_*555del (FANCL) ENSP00000512610.1:n.*553_*555del
ENST00000696410.1:c.*517_*519del (FANCL) ENSP00000512611.1:n.*517_*519del
ENST00000696411.1:n.741_743del (FANCL)
ENST00000696412.1:n.1535_1537del (FANCL)
ENST00000696413.1:n.1038_1040del (FANCL)
ENST00000696414.1:n.2082_2084del (FANCL)
ENST00000696415.1:c.*9_*11del (FANCL) ENSP00000512612.1:n.*9_*11del
ENST00000696416.1:n.1044_1046del (FANCL)
ENST00000696432.1:n.3495_3497del (FANCL)
ENST00000696433.1:c.*89_*91del (FANCL) ENSP00000512627.1:n.*89_*91del
ENST00000696434.1:c.874_876del (FANCL) ENSP00000512628.1:p.Leu292del
ENST00000696435.1:c.*183_*185del (FANCL) ENSP00000512629.1:n.*183_*185del
ENST00000696436.1:n.990_992del (FANCL)
ENST00000696437.1:n.1453_1455del (FANCL)
ENST00000696438.1:c.*869_*871del (FANCL) ENSP00000512630.1:n.*869_*871del
ENST00000696439.1:n.3085_3087del (FANCL)
ENST00000696440.1:n.2072_2074del (FANCL)
ENST00000696454.1:c.*387_*389del (FANCL) ENSP00000512641.1:n.*387_*389del
ENST00000696455.1:c.*89_*91del (FANCL) ENSP00000512642.1:n.*89_*91del
ENST00000696456.1:n.546_548del (FANCL)
ENST00000696457.1:c.*1807_*1809del (FANCL) ENSP00000512643.1:n.*1807_*1809del
ENST00000696458.1:c.*9_*11del (FANCL) ENSP00000512644.1:n.*9_*11del
ENST00000696459.1:c.*471_*473del (FANCL) ENSP00000512645.1:n.*471_*473del
ENST00000696460.1:n.1533_1535del (FANCL)
ENST00000696467.1:c.*532_*534del (FANCL) ENSP00000512648.1:n.*532_*534del
ENST00000696468.1:c.*528_*530del (FANCL) ENSP00000512649.1:n.*528_*530del
ENST00000696469.1:c.*183_*185del (FANCL) ENSP00000512650.1:n.*183_*185del
ENST00000696470.1:n.3204_3206del (FANCL)
ENST00000696471.1:n.706_708del (FANCL)
ENST00000696472.1:c.*89_*91del (FANCL) ENSP00000512651.1:n.*89_*91del
ENST00000696473.1:c.*719_*721del (FANCL) ENSP00000512652.1:n.*719_*721del
ENST00000696474.1:n.912_914del (FANCL)
ENST00000696475.1:n.2544_2546del (FANCL)
ENST00000696492.1:c.*701_*703del (FANCL) ENSP00000512662.1:n.*701_*703del
ENST00000696493.1:c.*884_*886del (FANCL) ENSP00000512663.1:n.*884_*886del
ENST00000696494.1:n.1068_1070del (FANCL)
ENST00000696495.1:c.*782_*784del (FANCL) ENSP00000512664.1:n.*782_*784del
ENST00000696496.1:n.1575_1577del (FANCL)
ENST00000696497.1:n.4333_4335del (FANCL)
ENST00000696498.1:n.1795_1797del (FANCL)
ENST00000696499.1:c.*473_*475del (FANCL) ENSP00000512665.1:n.*473_*475del
ENST00000696508.1:c.*591_*593del (FANCL) ENSP00000512674.1:n.*591_*593del
ENST00000696509.1:c.*913_*915del (FANCL) ENSP00000512675.1:n.*913_*915del
ENST00000696510.1:c.508_510del (FANCL) ENSP00000512676.1:p.Leu170del
ENST00000696527.1:c.*89_*91del (FANCL) ENSP00000512690.1:n.*89_*91del
ENST00000696528.1:c.*89_*91del (FANCL) ENSP00000512691.1:n.*89_*91del
ENST00000696529.1:n.899_901del (FANCL)
ENST00000696530.1:c.832_834del (FANCL) ENSP00000512692.1:p.Leu278del
ENST00000696531.1:c.*568_*570del (FANCL) ENSP00000512693.1:n.*568_*570del
ENST00000696532.1:n.2183_2185del (FANCL)
ENST00000696542.1:n.974_976del (FANCL)
ENST00000696543.1:c.*89_*91del (FANCL) ENSP00000512703.1:n.*89_*91del
ENST00000696544.1:c.*89_*91del (FANCL) ENSP00000512704.1:n.*89_*91del
ENST00000696545.1:c.*704_*706del (FANCL) ENSP00000512705.1:n.*704_*706del
ENST00000696546.1:c.*815_*817del (FANCL) ENSP00000512706.1:n.*815_*817del
ENST00000696547.1:c.1024_1026del (FANCL) ENSP00000512707.1:p.Leu342del
ENST00000696548.1:c.*1240_*1242del (FANCL) ENSP00000512708.1:n.*1240_*1242del
ENST00000696564.1:c.*89_*91del (FANCL) ENSP00000512722.1:n.*89_*91del
ENST00000696565.1:c.*89_*91del (FANCL) ENSP00000512723.1:n.*89_*91del
ENST00000696566.1:n.3624_3626del (FANCL)
ENST00000696567.1:c.931_933del (FANCL) ENSP00000512724.1:p.Leu311del
ENST00000696568.1:n.462_464del (FANCL)
ENST00000696569.1:n.1145_1147del (FANCL)
ENST00000696570.1:c.*358_*360del (FANCL) ENSP00000512725.1:n.*358_*360del
ENST00000696619.1:n.2592_2594del (FANCL)
ENST00000696620.1:c.628_630del (FANCL) ENSP00000512759.1:p.Leu210del
ENST00000696621.1:c.*183_*185del (FANCL) ENSP00000512760.1:n.*183_*185del
ENST00000696622.1:n.2767_2769del (FANCL)
ENST00000696623.1:n.1002_1004del (FANCL)
ENST00000696624.1:c.967_969del (FANCL) ENSP00000512761.1:p.Leu323del
ENST00000696625.1:c.*486_*488del (FANCL) ENSP00000512762.1:n.*486_*488del
ENST00000696634.1:c.749_751del (FANCL) ENSP00000512770.1:n.749_751del
ENST00000696635.1:c.1012_1014del (FANCL) ENSP00000512771.1:p.Leu338del
ENST00000696636.1:n.3488_3490del (FANCL)
ENST00000696637.1:n.8109_8111del (FANCL)
ENST00000696638.1:n.1051_1053del (FANCL)
ENST00000696639.1:n.3114_3116del (FANCL)
ENST00000233741.9:c.1036_1038del (FANCL) MANE Select ENSP00000233741.5:p.Leu346del
ENST00000233741.8:c.1036_1038del (FANCL) ENSP00000233741.4:p.Leu346del
ENST00000402135.7:c.1051_1053del (FANCL) ENSP00000385021.3:p.Leu351del
ENST00000403295.7:c.952_954del (FANCL) ENSP00000386097.3:p.Leu318del
ENST00000403676.5:c.685_687del (FANCL) ENSP00000384046.1:p.Leu229del
ENST00000449070.5:c.859_861del (FANCL) ENSP00000401280.1:p.Leu287del
NM_001114636.1:c.1051_1053del , LRG_501t1:c.1051_1053del (FANCL) NP_001108108.1:p.Leu351del
NM_018062.3:c.1036_1038del , LRG_501t2:c.1036_1038del (FANCL) NP_060532.2:p.Leu346del
XM_005264395.2:c.1036_1038del (FANCL) XP_005264452.1:p.Leu346del
XM_005264397.3:c.685_687del (FANCL) XP_005264454.1:p.Leu229del
XM_011532939.1:c.1096_1098del (FANCL) XP_011531241.1:p.Leu366del
XM_011532940.1:c.1081_1083del (FANCL) XP_011531242.1:p.Leu361del
XM_011532941.1:c.1096_1098del (FANCL) XP_011531243.1:p.Leu366del
XM_011532942.1:c.1051_1053del (FANCL) XP_011531244.1:p.Leu351del
XM_011532943.1:c.1297_1299del (FANCL) XP_011531245.1:p.Leu433del
XM_011532944.1:c.745_747del (FANCL) XP_011531246.1:p.Leu249del
XM_011532945.1:c.700_702del (FANCL) XP_011531247.1:p.Leu234del
XR_939692.1:n.1035_1037del (FANCL)
NR_156742.1:n.825_827del (FANCL)
XM_005264395.4:c.1036_1038del (FANCL) XP_005264452.1:p.Leu346del
XM_005264540.4:c.*473_*475del (VRK2) XP_005264597.1:n.*473_*475del
XM_006712090.4:c.*850_*852del (VRK2) XP_006712153.1:n.*850_*852del
XM_006712092.4:c.*473_*475del (VRK2) XP_006712155.1:n.*473_*475del
XM_006712093.4:c.*473_*475del (VRK2) XP_006712156.1:n.*473_*475del
XM_011532939.3:c.1096_1098del (FANCL) XP_011531241.1:p.Leu366del
XM_011532940.3:c.1081_1083del (FANCL) XP_011531242.1:p.Leu361del
XM_011532941.2:c.1096_1098del (FANCL) XP_011531243.1:p.Leu366del
XM_011532942.3:c.1051_1053del (FANCL) XP_011531244.1:p.Leu351del
XM_011532944.2:c.745_747del (FANCL) XP_011531246.1:p.Leu249del
XM_011532945.2:c.700_702del (FANCL) XP_011531247.1:p.Leu234del
XM_011533092.3:c.*473_*475del (VRK2) XP_011531394.1:n.*473_*475del
XM_017004414.2:c.1081_1083del (FANCL) XP_016859903.1:p.Leu361del
XM_017004416.1:c.685_687del (FANCL) XP_016859905.1:p.Leu229del
XM_017004858.2:c.*850_*852del (VRK2) XP_016860347.1:n.*850_*852del
XM_017004859.2:c.*473_*475del (VRK2) XP_016860348.1:n.*473_*475del
XM_017004860.2:c.*473_*475del (VRK2) XP_016860349.1:n.*473_*475del
XM_017004861.2:c.*473_*475del (VRK2) XP_016860350.1:n.*473_*475del
XM_017004862.2:c.*473_*475del (VRK2) XP_016860351.1:n.*473_*475del
XM_017004863.2:c.*473_*475del (VRK2) XP_016860352.1:n.*473_*475del
XM_017004864.2:c.*850_*852del (VRK2) XP_016860353.1:n.*850_*852del
XM_017004865.1:c.*858_*860del (VRK2) XP_016860354.1:n.*858_*860del
XM_017004866.1:c.*858_*860del (VRK2) XP_016860355.1:n.*858_*860del
XR_001738802.2:n.982_984del (FANCL)
XR_001738803.2:n.967_969del (FANCL)
XR_002959309.1:n.1678_1680del (FANCL)
XR_939692.2:n.1027_1029del (FANCL)
NM_001374615.1:c.1081_1083del (FANCL) NP_001361544.1:p.Leu361del
NM_018062.4:c.1036_1038del (FANCL) MANE Select NP_060532.2:p.Leu346del
NR_164659.1:n.917_919del (FANCL)
Search 100 bp 5'
Search 100 bp 3'