Linked Data
ClinVar Variation Id:
210988
dbSNP Id:
rs759217526
ExAC:
2:58386928 G / GTAAT
gnomAD v2:
2-58386928-G-GTAAT
gnomAD v3:
2-58159793-G-GTAAT
gnomAD v4:
2-58159793-G-GTAAT
COSMIC:
COSM5608709
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58159795_58159798dup , CM000664.2:g.58159795_58159798dup | GRCh38 |
| NC_000002.11:g.58386930_58386933dup , CM000664.1:g.58386930_58386933dup | GRCh37 |
| NC_000002.10:g.58240434_58240437dup | NCBI36 |
| NG_007418.1:g.86583_86586dup , LRG_501:g.86583_86586dup | |
| NG_029717.2:g.257055_257058dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1111_1114dup (FANCL) | ENSP00000385021.3:p.Thr372AsnfsTer13 | |
| ENST00000403295.8:c.1012_1015dup (FANCL) | ENSP00000386097.3:p.Thr339AsnfsTer13 | |
| ENST00000403676.6:c.*659_*662dup (FANCL) | ENSP00000384046.2:n.*659_*662dup | |
| ENST00000417361.2:c.*674_*677dup (FANCL) | ENSP00000389448.2:n.*674_*677dup | |
| ENST00000427708.7:c.1141_1144dup (FANCL) | ENSP00000400969.3:p.Thr382AsnfsTer13 | |
| ENST00000446381.6:c.652_655dup (FANCL) | ENSP00000390991.2:p.Thr219AsnfsTer13 | |
| ENST00000449070.6:c.919_922dup (FANCL) | ENSP00000401280.2:p.Thr308AsnfsTer13 | |
| ENST00000470506.2:n.1610_1613dup (FANCL) | ||
| ENST00000696305.1:c.1039_1042dup (FANCL) | ENSP00000512543.1:p.Thr348AsnfsTer13 | |
| ENST00000696306.1:c.*986_*989dup (FANCL) | ENSP00000512544.1:n.*986_*989dup | |
| ENST00000696307.1:c.1081_1084dup (FANCL) | ENSP00000512545.1:p.Thr362AsnfsTer13 | |
| ENST00000696314.1:c.*149_*152dup (FANCL) | ENSP00000512552.1:n.*149_*152dup | |
| ENST00000696315.1:c.*966_*969dup (FANCL) | ENSP00000512553.1:n.*966_*969dup | |
| ENST00000696316.1:c.979_982dup (FANCL) | ENSP00000512554.1:p.Thr328AsnfsTer13 | |
| ENST00000696317.1:c.*69_*72dup (FANCL) | ENSP00000512555.1:n.*69_*72dup | |
| ENST00000696318.1:c.*456_*459dup (FANCL) | ENSP00000512556.1:n.*456_*459dup | |
| ENST00000696319.1:c.1054_1057dup (FANCL) | ENSP00000512557.1:p.Thr353AsnfsTer13 | |
| ENST00000696320.1:n.2775_2778dup (FANCL) | ||
| ENST00000696324.1:c.*546_*549dup (FANCL) | ENSP00000512561.1:n.*546_*549dup | |
| ENST00000696325.1:n.4179_4182dup (FANCL) | ||
| ENST00000696326.1:c.1156_1159dup (FANCL) | ENSP00000512562.1:p.Thr387AsnfsTer13 | |
| ENST00000696338.1:n.1210_1213dup (FANCL) | ||
| ENST00000696339.1:n.2975_2978dup (FANCL) | ||
| ENST00000696340.1:n.3322_3325dup (FANCL) | ||
| ENST00000696341.1:n.1604_1607dup (FANCL) | ||
| ENST00000696342.1:c.*2633_*2636dup (FANCL) | ENSP00000512569.1:n.*2633_*2636dup | |
| ENST00000696343.1:n.3262_3265dup (FANCL) | ||
| ENST00000696344.1:c.*810_*813dup (FANCL) | ENSP00000512570.1:n.*810_*813dup | |
| ENST00000696358.1:n.3769_3772dup (FANCL) | ||
| ENST00000696359.1:n.3753_3756dup (FANCL) | ||
| ENST00000696360.1:n.1881_1884dup (FANCL) | ||
| ENST00000696361.1:c.*1099_*1102dup (FANCL) | ENSP00000512579.1:n.*1099_*1102dup | |
| ENST00000696362.1:c.*546_*549dup (FANCL) | ENSP00000512580.1:n.*546_*549dup | |
| ENST00000696363.1:n.2873_2876dup (FANCL) | ||
| ENST00000696364.1:n.1489_1492dup (FANCL) | ||
| ENST00000696371.1:c.1087_1090dup (FANCL) | ENSP00000512586.1:p.Thr364AsnfsTer13 | |
| ENST00000696372.1:n.2185_2188dup (FANCL) | ||
| ENST00000696373.1:c.*2326_*2329dup (FANCL) | ENSP00000512587.1:n.*2326_*2329dup | |
| ENST00000696374.1:c.*464_*467dup (FANCL) | ENSP00000512588.1:n.*464_*467dup | |
| ENST00000696375.1:n.8029_8032dup (FANCL) | ||
| ENST00000696376.1:n.6882_6885dup (FANCL) | ||
| ENST00000696378.1:c.*1114_*1117dup (FANCL) | ENSP00000512589.1:n.*1114_*1117dup | |
| ENST00000696394.1:n.4598_4601dup (FANCL) | ||
| ENST00000696395.1:n.4537_4540dup (FANCL) | ||
| ENST00000696396.1:n.2250_2253dup (FANCL) | ||
| ENST00000696397.1:n.3528_3531dup (FANCL) | ||
| ENST00000696398.1:c.*243_*246dup (FANCL) | ENSP00000512604.1:n.*243_*246dup | |
| ENST00000696399.1:n.2370_2373dup (FANCL) | ||
| ENST00000696400.1:c.*860_*863dup (FANCL) | ENSP00000512605.1:n.*860_*863dup | |
| ENST00000696409.1:c.*613_*616dup (FANCL) | ENSP00000512610.1:n.*613_*616dup | |
| ENST00000696410.1:c.*577_*580dup (FANCL) | ENSP00000512611.1:n.*577_*580dup | |
| ENST00000696411.1:n.801_804dup (FANCL) | ||
| ENST00000696412.1:n.1595_1598dup (FANCL) | ||
| ENST00000696413.1:n.1405_1408dup (FANCL) | ||
| ENST00000696414.1:n.2142_2145dup (FANCL) | ||
| ENST00000696415.1:c.*69_*72dup (FANCL) | ENSP00000512612.1:n.*69_*72dup | |
| ENST00000696416.1:n.1411_1414dup (FANCL) | ||
| ENST00000696432.1:n.3555_3558dup (FANCL) | ||
| ENST00000696433.1:c.*149_*152dup (FANCL) | ENSP00000512627.1:n.*149_*152dup | |
| ENST00000696434.1:c.934_937dup (FANCL) | ENSP00000512628.1:p.Thr313AsnfsTer13 | |
| ENST00000696435.1:c.*243_*246dup (FANCL) | ENSP00000512629.1:n.*243_*246dup | |
| ENST00000696436.1:n.1050_1053dup (FANCL) | ||
| ENST00000696437.1:n.1820_1823dup (FANCL) | ||
| ENST00000696438.1:c.*929_*932dup (FANCL) | ENSP00000512630.1:n.*929_*932dup | |
| ENST00000696439.1:n.3145_3148dup (FANCL) | ||
| ENST00000696440.1:n.2132_2135dup (FANCL) | ||
| ENST00000696454.1:c.*447_*450dup (FANCL) | ENSP00000512641.1:n.*447_*450dup | |
| ENST00000696455.1:c.*149_*152dup (FANCL) | ENSP00000512642.1:n.*149_*152dup | |
| ENST00000696456.1:n.606_609dup (FANCL) | ||
| ENST00000696457.1:c.*1867_*1870dup (FANCL) | ENSP00000512643.1:n.*1867_*1870dup | |
| ENST00000696458.1:c.*69_*72dup (FANCL) | ENSP00000512644.1:n.*69_*72dup | |
| ENST00000696459.1:c.*531_*534dup (FANCL) | ENSP00000512645.1:n.*531_*534dup | |
| ENST00000696460.1:n.1593_1596dup (FANCL) | ||
| ENST00000696467.1:c.*592_*595dup (FANCL) | ENSP00000512648.1:n.*592_*595dup | |
| ENST00000696468.1:c.*588_*591dup (FANCL) | ENSP00000512649.1:n.*588_*591dup | |
| ENST00000696469.1:c.*243_*246dup (FANCL) | ENSP00000512650.1:n.*243_*246dup | |
| ENST00000696470.1:n.3264_3267dup (FANCL) | ||
| ENST00000696471.1:n.766_769dup (FANCL) | ||
| ENST00000696472.1:c.*149_*152dup (FANCL) | ENSP00000512651.1:n.*149_*152dup | |
| ENST00000696473.1:c.*779_*782dup (FANCL) | ENSP00000512652.1:n.*779_*782dup | |
| ENST00000696474.1:n.972_975dup (FANCL) | ||
| ENST00000696475.1:n.2604_2607dup (FANCL) | ||
| ENST00000696492.1:c.*761_*764dup (FANCL) | ENSP00000512662.1:n.*761_*764dup | |
| ENST00000696493.1:c.*944_*947dup (FANCL) | ENSP00000512663.1:n.*944_*947dup | |
| ENST00000696494.1:n.1128_1131dup (FANCL) | ||
| ENST00000696495.1:c.*842_*845dup (FANCL) | ENSP00000512664.1:n.*842_*845dup | |
| ENST00000696496.1:n.1635_1638dup (FANCL) | ||
| ENST00000696497.1:n.4393_4396dup (FANCL) | ||
| ENST00000696498.1:n.1855_1858dup (FANCL) | ||
| ENST00000696499.1:c.*533_*536dup (FANCL) | ENSP00000512665.1:n.*533_*536dup | |
| ENST00000696508.1:c.*651_*654dup (FANCL) | ENSP00000512674.1:n.*651_*654dup | |
| ENST00000696509.1:c.*973_*976dup (FANCL) | ENSP00000512675.1:n.*973_*976dup | |
| ENST00000696510.1:c.568_571dup (FANCL) | ENSP00000512676.1:p.Thr191AsnfsTer13 | |
| ENST00000696527.1:c.*456_*459dup (FANCL) | ENSP00000512690.1:n.*456_*459dup | |
| ENST00000696528.1:c.*149_*152dup (FANCL) | ENSP00000512691.1:n.*149_*152dup | |
| ENST00000696529.1:n.959_962dup (FANCL) | ||
| ENST00000696530.1:c.892_895dup (FANCL) | ENSP00000512692.1:p.Thr299AsnfsTer13 | |
| ENST00000696531.1:c.*628_*631dup (FANCL) | ENSP00000512693.1:n.*628_*631dup | |
| ENST00000696532.1:n.2243_2246dup (FANCL) | ||
| ENST00000696542.1:n.1034_1037dup (FANCL) | ||
| ENST00000696543.1:c.*149_*152dup (FANCL) | ENSP00000512703.1:n.*149_*152dup | |
| ENST00000696544.1:c.*149_*152dup (FANCL) | ENSP00000512704.1:n.*149_*152dup | |
| ENST00000696545.1:c.*764_*767dup (FANCL) | ENSP00000512705.1:n.*764_*767dup | |
| ENST00000696546.1:c.*875_*878dup (FANCL) | ENSP00000512706.1:n.*875_*878dup | |
| ENST00000696547.1:c.1084_1087dup (FANCL) | ENSP00000512707.1:p.Thr363AsnfsTer13 | |
| ENST00000696548.1:c.*1300_*1303dup (FANCL) | ENSP00000512708.1:n.*1300_*1303dup | |
| ENST00000696564.1:c.*149_*152dup (FANCL) | ENSP00000512722.1:n.*149_*152dup | |
| ENST00000696565.1:c.*149_*152dup (FANCL) | ENSP00000512723.1:n.*149_*152dup | |
| ENST00000696566.1:n.3684_3687dup (FANCL) | ||
| ENST00000696567.1:c.991_994dup (FANCL) | ENSP00000512724.1:p.Thr332AsnfsTer13 | |
| ENST00000696568.1:n.522_525dup (FANCL) | ||
| ENST00000696569.1:n.1205_1208dup (FANCL) | ||
| ENST00000696570.1:c.*418_*421dup (FANCL) | ENSP00000512725.1:n.*418_*421dup | |
| ENST00000696619.1:n.2652_2655dup (FANCL) | ||
| ENST00000696620.1:c.688_691dup (FANCL) | ENSP00000512759.1:p.Thr231AsnfsTer13 | |
| ENST00000696621.1:c.*243_*246dup (FANCL) | ENSP00000512760.1:n.*243_*246dup | |
| ENST00000696622.1:n.2827_2830dup (FANCL) | ||
| ENST00000696623.1:n.1062_1065dup (FANCL) | ||
| ENST00000696624.1:c.1027_1030dup (FANCL) | ENSP00000512761.1:p.Thr344AsnfsTer13 | |
| ENST00000696625.1:c.*546_*549dup (FANCL) | ENSP00000512762.1:n.*546_*549dup | |
| ENST00000696634.1:c.809_812dup (FANCL) | ENSP00000512770.1:n.809_812dup | |
| ENST00000696635.1:c.1072_1075dup (FANCL) | ENSP00000512771.1:p.Thr359AsnfsTer13 | |
| ENST00000696636.1:n.3855_3858dup (FANCL) | ||
| ENST00000696637.1:n.8169_8172dup (FANCL) | ||
| ENST00000696638.1:n.1111_1114dup (FANCL) | ||
| ENST00000696639.1:n.3481_3484dup (FANCL) | ||
| ENST00000233741.9:c.1096_1099dup (FANCL) MANE Select | ENSP00000233741.5:p.Thr367AsnfsTer13 | |
| ENST00000340157.9:c.*102_*105dup (VRK2) MANE Select | ENSP00000342381.4:n.*102_*105dup | |
| ENST00000648897.1:c.*479_*482dup (VRK2) | ENSP00000497378.1:n.*479_*482dup | |
| ENST00000233741.8:c.1096_1099dup (FANCL) | ENSP00000233741.4:p.Thr367AsnfsTer13 | |
| ENST00000340157.8:c.*102_*105dup (VRK2) | ENSP00000342381.4:n.*102_*105dup | |
| ENST00000402135.7:c.1111_1114dup (FANCL) | ENSP00000385021.3:p.Thr372AsnfsTer13 | |
| ENST00000403295.7:c.1012_1015dup (FANCL) | ENSP00000386097.3:p.Thr339AsnfsTer13 | |
| ENST00000403676.5:c.745_748dup (FANCL) | ENSP00000384046.1:p.Thr250AsnfsTer13 | |
| ENST00000412104.6:c.*102_*105dup (VRK2) | ENSP00000404156.3:n.*102_*105dup | |
| ENST00000417641.6:c.*487_*490dup (VRK2) | ENSP00000402375.2:n.*487_*490dup | |
| ENST00000435505.6:c.*102_*105dup (VRK2) | ENSP00000408002.2:n.*102_*105dup | |
| NM_001114636.1:c.1111_1114dup , LRG_501t1:c.1111_1114dup (FANCL) | NP_001108108.1:p.Thr372AsnfsTer13 | |
| NM_001130480.2:c.*102_*105dup (VRK2) | NP_001123952.1:n.*102_*105dup | |
| NM_001130481.2:c.*102_*105dup (VRK2) | NP_001123953.1:n.*102_*105dup | |
| NM_001130482.2:c.*102_*105dup (VRK2) | NP_001123954.1:n.*102_*105dup | |
| NM_001130483.2:c.*487_*490dup (VRK2) | NP_001123955.1:n.*487_*490dup | |
| NM_001288836.1:c.*102_*105dup (VRK2) | NP_001275765.1:n.*102_*105dup | |
| NM_001288837.1:c.*102_*105dup (VRK2) | NP_001275766.1:n.*102_*105dup | |
| NM_001288838.1:c.*487_*490dup (VRK2) | NP_001275767.1:n.*487_*490dup | |
| NM_001288839.1:c.*102_*105dup (VRK2) | NP_001275768.1:n.*102_*105dup | |
| NM_006296.6:c.*102_*105dup (VRK2) | NP_006287.2:n.*102_*105dup | |
| NM_018062.3:c.1096_1099dup , LRG_501t2:c.1096_1099dup (FANCL) | NP_060532.2:p.Thr367AsnfsTer13 | |
| XM_005264397.3:c.745_748dup (FANCL) | XP_005264454.1:p.Thr250AsnfsTer13 | |
| XM_005264540.3:c.*102_*105dup (VRK2) | XP_005264597.1:n.*102_*105dup | |
| XM_005264541.2:c.*102_*105dup (VRK2) | XP_005264598.1:n.*102_*105dup | |
| XM_006712090.2:c.*479_*482dup (VRK2) | XP_006712153.1:n.*479_*482dup | |
| XM_006712091.2:c.*487_*490dup (VRK2) | XP_006712154.1:n.*487_*490dup | |
| XM_006712092.2:c.*102_*105dup (VRK2) | XP_006712155.1:n.*102_*105dup | |
| XM_006712093.2:c.*102_*105dup (VRK2) | XP_006712156.1:n.*102_*105dup | |
| XM_011532941.1:c.1156_1159dup (FANCL) | XP_011531243.1:p.Thr387AsnfsTer13 | |
| XM_011533092.1:c.*102_*105dup (VRK2) | XP_011531394.1:n.*102_*105dup | |
| XM_011533093.1:c.*102_*105dup (VRK2) | XP_011531395.1:n.*102_*105dup | |
| XM_011533094.1:c.*102_*105dup (VRK2) | XP_011531396.1:n.*102_*105dup | |
| XR_939692.1:n.1095_1098dup (FANCL) | ||
| NR_156742.1:n.885_888dup (FANCL) | ||
| XM_005264395.4:c.*251_*254dup (FANCL) | XP_005264452.1:n.*251_*254dup | |
| XM_005264540.4:c.*102_*105dup (VRK2) | XP_005264597.1:n.*102_*105dup | |
| XM_006712090.4:c.*479_*482dup (VRK2) | XP_006712153.1:n.*479_*482dup | |
| XM_006712091.4:c.*487_*490dup (VRK2) | XP_006712154.1:n.*487_*490dup | |
| XM_006712092.4:c.*102_*105dup (VRK2) | XP_006712155.1:n.*102_*105dup | |
| XM_006712093.4:c.*102_*105dup (VRK2) | XP_006712156.1:n.*102_*105dup | |
| XM_011532939.3:c.*251_*254dup (FANCL) | XP_011531241.1:n.*251_*254dup | |
| XM_011532940.3:c.*251_*254dup (FANCL) | XP_011531242.1:n.*251_*254dup | |
| XM_011532941.2:c.1156_1159dup (FANCL) | XP_011531243.1:p.Thr387AsnfsTer13 | |
| XM_011532942.3:c.*251_*254dup (FANCL) | XP_011531244.1:n.*251_*254dup | |
| XM_011532944.2:c.*251_*254dup (FANCL) | XP_011531246.1:n.*251_*254dup | |
| XM_011532945.2:c.*251_*254dup (FANCL) | XP_011531247.1:n.*251_*254dup | |
| XM_011533092.3:c.*102_*105dup (VRK2) | XP_011531394.1:n.*102_*105dup | |
| XM_017004414.2:c.1141_1144dup (FANCL) | XP_016859903.1:p.Thr382AsnfsTer13 | |
| XM_017004416.1:c.*251_*254dup (FANCL) | XP_016859905.1:n.*251_*254dup | |
| XM_017004858.2:c.*479_*482dup (VRK2) | XP_016860347.1:n.*479_*482dup | |
| XM_017004859.2:c.*102_*105dup (VRK2) | XP_016860348.1:n.*102_*105dup | |
| XM_017004860.2:c.*102_*105dup (VRK2) | XP_016860349.1:n.*102_*105dup | |
| XM_017004861.2:c.*102_*105dup (VRK2) | XP_016860350.1:n.*102_*105dup | |
| XM_017004862.2:c.*102_*105dup (VRK2) | XP_016860351.1:n.*102_*105dup | |
| XM_017004863.2:c.*102_*105dup (VRK2) | XP_016860352.1:n.*102_*105dup | |
| XM_017004864.2:c.*479_*482dup (VRK2) | XP_016860353.1:n.*479_*482dup | |
| XM_017004865.1:c.*487_*490dup (VRK2) | XP_016860354.1:n.*487_*490dup | |
| XM_017004866.1:c.*487_*490dup (VRK2) | XP_016860355.1:n.*487_*490dup | |
| XR_001738802.2:n.1042_1045dup (FANCL) | ||
| XR_001738803.2:n.1027_1030dup (FANCL) | ||
| XR_002959309.1:n.1738_1741dup (FANCL) | ||
| XR_939692.2:n.1087_1090dup (FANCL) | ||
| NM_001374615.1:c.1141_1144dup (FANCL) | NP_001361544.1:p.Thr382AsnfsTer13 | |
| NM_018062.4:c.1096_1099dup (FANCL) MANE Select | NP_060532.2:p.Thr367AsnfsTer13 | |
| NR_164659.1:n.977_980dup (FANCL) | ||
| NM_001288837.2:c.*102_*105dup (VRK2) | NP_001275766.1:n.*102_*105dup | |
| NM_001288838.2:c.*487_*490dup (VRK2) | NP_001275767.1:n.*487_*490dup | |
| NM_001288839.2:c.*102_*105dup (VRK2) | NP_001275768.1:n.*102_*105dup | |
| NM_006296.7:c.*102_*105dup (VRK2) MANE Select | NP_006287.2:n.*102_*105dup |