SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
ClinVar Variation Id:
810845
dbSNP Id:
rs1553433429
gnomAD v2:
2-58387283-CTCTG-C
gnomAD v3:
2-58160148-CTCTG-C
gnomAD v4:
2-58160148-CTCTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.58160152_58160155del , CM000664.2:g.58160152_58160155del | GRCh38 |
| NC_000002.11:g.58387287_58387290del , CM000664.1:g.58387287_58387290del | GRCh37 |
| NC_000002.10:g.58240791_58240794del | NCBI36 |
| NG_007418.1:g.86228_86231del , LRG_501:g.86228_86231del | |
| NG_029717.2:g.257412_257415del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402135.8:c.1063_1066del (FANCL) | ENSP00000385021.3:p.Gln355ValfsTer18 | |
| ENST00000403295.8:c.964_967del (FANCL) | ENSP00000386097.3:p.Gln322ValfsTer18 | |
| ENST00000403676.6:c.*611_*614del (FANCL) | ENSP00000384046.2:n.*611_*614del | |
| ENST00000417361.2:c.*626_*629del (FANCL) | ENSP00000389448.2:n.*626_*629del | |
| ENST00000427708.7:c.1093_1096del (FANCL) | ENSP00000400969.3:p.Gln365ValfsTer18 | |
| ENST00000446381.6:c.604_607del (FANCL) | ENSP00000390991.2:p.Gln202ValfsTer18 | |
| ENST00000449070.6:c.871_874del (FANCL) | ENSP00000401280.2:p.Gln291ValfsTer18 | |
| ENST00000470506.2:n.1562_1565del (FANCL) | ||
| ENST00000696305.1:c.991_994del (FANCL) | ENSP00000512543.1:p.Gln331ValfsTer18 | |
| ENST00000696306.1:c.*938_*941del (FANCL) | ENSP00000512544.1:n.*938_*941del | |
| ENST00000696307.1:c.1033_1036del (FANCL) | ENSP00000512545.1:p.Gln345ValfsTer18 | |
| ENST00000696314.1:c.*101_*104del (FANCL) | ENSP00000512552.1:n.*101_*104del | |
| ENST00000696315.1:c.*611_*614del (FANCL) | ENSP00000512553.1:n.*611_*614del | |
| ENST00000696316.1:c.931_934del (FANCL) | ENSP00000512554.1:p.Gln311ValfsTer18 | |
| ENST00000696317.1:c.*21_*24del (FANCL) | ENSP00000512555.1:n.*21_*24del | |
| ENST00000696318.1:c.*101_*104del (FANCL) | ENSP00000512556.1:n.*101_*104del | |
| ENST00000696319.1:c.1006_1009del (FANCL) | ENSP00000512557.1:p.Gln336ValfsTer18 | |
| ENST00000696320.1:n.2727_2730del (FANCL) | ||
| ENST00000696324.1:c.*498_*501del (FANCL) | ENSP00000512561.1:n.*498_*501del | |
| ENST00000696325.1:n.4131_4134del (FANCL) | ||
| ENST00000696326.1:c.1108_1111del (FANCL) | ENSP00000512562.1:p.Gln370ValfsTer18 | |
| ENST00000696338.1:n.1162_1165del (FANCL) | ||
| ENST00000696339.1:n.2620_2623del (FANCL) | ||
| ENST00000696340.1:n.3274_3277del (FANCL) | ||
| ENST00000696341.1:n.1556_1559del (FANCL) | ||
| ENST00000696342.1:c.*2278_*2281del (FANCL) | ENSP00000512569.1:n.*2278_*2281del | |
| ENST00000696343.1:n.2907_2910del (FANCL) | ||
| ENST00000696344.1:c.*762_*765del (FANCL) | ENSP00000512570.1:n.*762_*765del | |
| ENST00000696358.1:n.3721_3724del (FANCL) | ||
| ENST00000696359.1:n.3398_3401del (FANCL) | ||
| ENST00000696360.1:n.1833_1836del (FANCL) | ||
| ENST00000696361.1:c.*1051_*1054del (FANCL) | ENSP00000512579.1:n.*1051_*1054del | |
| ENST00000696362.1:c.*498_*501del (FANCL) | ENSP00000512580.1:n.*498_*501del | |
| ENST00000696363.1:n.2825_2828del (FANCL) | ||
| ENST00000696364.1:n.1441_1444del (FANCL) | ||
| ENST00000696371.1:c.1039_1042del (FANCL) | ENSP00000512586.1:p.Gln347ValfsTer18 | |
| ENST00000696372.1:n.2137_2140del (FANCL) | ||
| ENST00000696373.1:c.*2278_*2281del (FANCL) | ENSP00000512587.1:n.*2278_*2281del | |
| ENST00000696374.1:c.*416_*419del (FANCL) | ENSP00000512588.1:n.*416_*419del | |
| ENST00000696375.1:n.7981_7984del (FANCL) | ||
| ENST00000696376.1:n.6834_6837del (FANCL) | ||
| ENST00000696378.1:c.*1066_*1069del (FANCL) | ENSP00000512589.1:n.*1066_*1069del | |
| ENST00000696394.1:n.4550_4553del (FANCL) | ||
| ENST00000696395.1:n.4489_4492del (FANCL) | ||
| ENST00000696396.1:n.2202_2205del (FANCL) | ||
| ENST00000696397.1:n.3173_3176del (FANCL) | ||
| ENST00000696398.1:c.*195_*198del (FANCL) | ENSP00000512604.1:n.*195_*198del | |
| ENST00000696399.1:n.2322_2325del (FANCL) | ||
| ENST00000696400.1:c.*812_*815del (FANCL) | ENSP00000512605.1:n.*812_*815del | |
| ENST00000696409.1:c.*565_*568del (FANCL) | ENSP00000512610.1:n.*565_*568del | |
| ENST00000696410.1:c.*529_*532del (FANCL) | ENSP00000512611.1:n.*529_*532del | |
| ENST00000696411.1:n.753_756del (FANCL) | ||
| ENST00000696412.1:n.1547_1550del (FANCL) | ||
| ENST00000696413.1:n.1050_1053del (FANCL) | ||
| ENST00000696414.1:n.2094_2097del (FANCL) | ||
| ENST00000696415.1:c.*21_*24del (FANCL) | ENSP00000512612.1:n.*21_*24del | |
| ENST00000696416.1:n.1056_1059del (FANCL) | ||
| ENST00000696432.1:n.3507_3510del (FANCL) | ||
| ENST00000696433.1:c.*101_*104del (FANCL) | ENSP00000512627.1:n.*101_*104del | |
| ENST00000696434.1:c.886_889del (FANCL) | ENSP00000512628.1:p.Gln296ValfsTer18 | |
| ENST00000696435.1:c.*195_*198del (FANCL) | ENSP00000512629.1:n.*195_*198del | |
| ENST00000696436.1:n.1002_1005del (FANCL) | ||
| ENST00000696437.1:n.1465_1468del (FANCL) | ||
| ENST00000696438.1:c.*881_*884del (FANCL) | ENSP00000512630.1:n.*881_*884del | |
| ENST00000696439.1:n.3097_3100del (FANCL) | ||
| ENST00000696440.1:n.2084_2087del (FANCL) | ||
| ENST00000696454.1:c.*399_*402del (FANCL) | ENSP00000512641.1:n.*399_*402del | |
| ENST00000696455.1:c.*101_*104del (FANCL) | ENSP00000512642.1:n.*101_*104del | |
| ENST00000696456.1:n.558_561del (FANCL) | ||
| ENST00000696457.1:c.*1819_*1822del (FANCL) | ENSP00000512643.1:n.*1819_*1822del | |
| ENST00000696458.1:c.*21_*24del (FANCL) | ENSP00000512644.1:n.*21_*24del | |
| ENST00000696459.1:c.*483_*486del (FANCL) | ENSP00000512645.1:n.*483_*486del | |
| ENST00000696460.1:n.1545_1548del (FANCL) | ||
| ENST00000696467.1:c.*544_*547del (FANCL) | ENSP00000512648.1:n.*544_*547del | |
| ENST00000696468.1:c.*540_*543del (FANCL) | ENSP00000512649.1:n.*540_*543del | |
| ENST00000696469.1:c.*195_*198del (FANCL) | ENSP00000512650.1:n.*195_*198del | |
| ENST00000696470.1:n.3216_3219del (FANCL) | ||
| ENST00000696471.1:n.718_721del (FANCL) | ||
| ENST00000696472.1:c.*101_*104del (FANCL) | ENSP00000512651.1:n.*101_*104del | |
| ENST00000696473.1:c.*731_*734del (FANCL) | ENSP00000512652.1:n.*731_*734del | |
| ENST00000696474.1:n.924_927del (FANCL) | ||
| ENST00000696475.1:n.2556_2559del (FANCL) | ||
| ENST00000696492.1:c.*713_*716del (FANCL) | ENSP00000512662.1:n.*713_*716del | |
| ENST00000696493.1:c.*896_*899del (FANCL) | ENSP00000512663.1:n.*896_*899del | |
| ENST00000696494.1:n.1080_1083del (FANCL) | ||
| ENST00000696495.1:c.*794_*797del (FANCL) | ENSP00000512664.1:n.*794_*797del | |
| ENST00000696496.1:n.1587_1590del (FANCL) | ||
| ENST00000696497.1:n.4345_4348del (FANCL) | ||
| ENST00000696498.1:n.1807_1810del (FANCL) | ||
| ENST00000696499.1:c.*485_*488del (FANCL) | ENSP00000512665.1:n.*485_*488del | |
| ENST00000696508.1:c.*603_*606del (FANCL) | ENSP00000512674.1:n.*603_*606del | |
| ENST00000696509.1:c.*925_*928del (FANCL) | ENSP00000512675.1:n.*925_*928del | |
| ENST00000696510.1:c.520_523del (FANCL) | ENSP00000512676.1:p.Gln174ValfsTer18 | |
| ENST00000696527.1:c.*101_*104del (FANCL) | ENSP00000512690.1:n.*101_*104del | |
| ENST00000696528.1:c.*101_*104del (FANCL) | ENSP00000512691.1:n.*101_*104del | |
| ENST00000696529.1:n.911_914del (FANCL) | ||
| ENST00000696530.1:c.844_847del (FANCL) | ENSP00000512692.1:p.Gln282ValfsTer18 | |
| ENST00000696531.1:c.*580_*583del (FANCL) | ENSP00000512693.1:n.*580_*583del | |
| ENST00000696532.1:n.2195_2198del (FANCL) | ||
| ENST00000696542.1:n.986_989del (FANCL) | ||
| ENST00000696543.1:c.*101_*104del (FANCL) | ENSP00000512703.1:n.*101_*104del | |
| ENST00000696544.1:c.*101_*104del (FANCL) | ENSP00000512704.1:n.*101_*104del | |
| ENST00000696545.1:c.*716_*719del (FANCL) | ENSP00000512705.1:n.*716_*719del | |
| ENST00000696546.1:c.*827_*830del (FANCL) | ENSP00000512706.1:n.*827_*830del | |
| ENST00000696547.1:c.1036_1039del (FANCL) | ENSP00000512707.1:p.Gln346ValfsTer18 | |
| ENST00000696548.1:c.*1252_*1255del (FANCL) | ENSP00000512708.1:n.*1252_*1255del | |
| ENST00000696564.1:c.*101_*104del (FANCL) | ENSP00000512722.1:n.*101_*104del | |
| ENST00000696565.1:c.*101_*104del (FANCL) | ENSP00000512723.1:n.*101_*104del | |
| ENST00000696566.1:n.3636_3639del (FANCL) | ||
| ENST00000696567.1:c.943_946del (FANCL) | ENSP00000512724.1:p.Gln315ValfsTer18 | |
| ENST00000696568.1:n.474_477del (FANCL) | ||
| ENST00000696569.1:n.1157_1160del (FANCL) | ||
| ENST00000696570.1:c.*370_*373del (FANCL) | ENSP00000512725.1:n.*370_*373del | |
| ENST00000696619.1:n.2604_2607del (FANCL) | ||
| ENST00000696620.1:c.640_643del (FANCL) | ENSP00000512759.1:p.Gln214ValfsTer18 | |
| ENST00000696621.1:c.*195_*198del (FANCL) | ENSP00000512760.1:n.*195_*198del | |
| ENST00000696622.1:n.2779_2782del (FANCL) | ||
| ENST00000696623.1:n.1014_1017del (FANCL) | ||
| ENST00000696624.1:c.979_982del (FANCL) | ENSP00000512761.1:p.Gln327ValfsTer18 | |
| ENST00000696625.1:c.*498_*501del (FANCL) | ENSP00000512762.1:n.*498_*501del | |
| ENST00000696634.1:c.761_764del (FANCL) | ENSP00000512770.1:n.761_764del | |
| ENST00000696635.1:c.1024_1027del (FANCL) | ENSP00000512771.1:p.Gln342ValfsTer18 | |
| ENST00000696636.1:n.3500_3503del (FANCL) | ||
| ENST00000696637.1:n.8121_8124del (FANCL) | ||
| ENST00000696638.1:n.1063_1066del (FANCL) | ||
| ENST00000696639.1:n.3126_3129del (FANCL) | ||
| ENST00000233741.9:c.1048_1051del (FANCL) MANE Select | ENSP00000233741.5:p.Gln350ValfsTer18 | |
| ENST00000233741.8:c.1048_1051del (FANCL) | ENSP00000233741.4:p.Gln350ValfsTer18 | |
| ENST00000402135.7:c.1063_1066del (FANCL) | ENSP00000385021.3:p.Gln355ValfsTer18 | |
| ENST00000403295.7:c.964_967del (FANCL) | ENSP00000386097.3:p.Gln322ValfsTer18 | |
| ENST00000403676.5:c.697_700del (FANCL) | ENSP00000384046.1:p.Gln233ValfsTer18 | |
| ENST00000449070.5:c.871_874del (FANCL) | ENSP00000401280.1:p.Gln291ValfsTer? | |
| NM_001114636.1:c.1063_1066del , LRG_501t1:c.1063_1066del (FANCL) | NP_001108108.1:p.Gln355ValfsTer18 | |
| NM_018062.3:c.1048_1051del , LRG_501t2:c.1048_1051del (FANCL) | NP_060532.2:p.Gln350ValfsTer18 | |
| XM_005264395.2:c.1048_1051del (FANCL) | XP_005264452.1:p.Gln350ValfsTer15 | |
| XM_005264397.3:c.697_700del (FANCL) | XP_005264454.1:p.Gln233ValfsTer18 | |
| XM_011532939.1:c.1108_1111del (FANCL) | XP_011531241.1:p.Gln370ValfsTer15 | |
| XM_011532940.1:c.1093_1096del (FANCL) | XP_011531242.1:p.Gln365ValfsTer15 | |
| XM_011532941.1:c.1108_1111del (FANCL) | XP_011531243.1:p.Gln370ValfsTer18 | |
| XM_011532942.1:c.1063_1066del (FANCL) | XP_011531244.1:p.Gln355ValfsTer15 | |
| XM_011532943.1:c.1309_1312del (FANCL) | XP_011531245.1:p.Gln437ValfsTer15 | |
| XM_011532944.1:c.757_760del (FANCL) | XP_011531246.1:p.Gln253ValfsTer15 | |
| XM_011532945.1:c.712_715del (FANCL) | XP_011531247.1:p.Gln238ValfsTer15 | |
| XR_939692.1:n.1047_1050del (FANCL) | ||
| NR_156742.1:n.837_840del (FANCL) | ||
| XM_005264395.4:c.1048_1051del (FANCL) | XP_005264452.1:p.Gln350ValfsTer15 | |
| XM_005264540.4:c.*459_*462del (VRK2) | XP_005264597.1:n.*459_*462del | |
| XM_006712090.4:c.*836_*839del (VRK2) | XP_006712153.1:n.*836_*839del | |
| XM_006712092.4:c.*459_*462del (VRK2) | XP_006712155.1:n.*459_*462del | |
| XM_006712093.4:c.*459_*462del (VRK2) | XP_006712156.1:n.*459_*462del | |
| XM_011532939.3:c.1108_1111del (FANCL) | XP_011531241.1:p.Gln370ValfsTer15 | |
| XM_011532940.3:c.1093_1096del (FANCL) | XP_011531242.1:p.Gln365ValfsTer15 | |
| XM_011532941.2:c.1108_1111del (FANCL) | XP_011531243.1:p.Gln370ValfsTer18 | |
| XM_011532942.3:c.1063_1066del (FANCL) | XP_011531244.1:p.Gln355ValfsTer15 | |
| XM_011532944.2:c.757_760del (FANCL) | XP_011531246.1:p.Gln253ValfsTer15 | |
| XM_011532945.2:c.712_715del (FANCL) | XP_011531247.1:p.Gln238ValfsTer15 | |
| XM_011533092.3:c.*459_*462del (VRK2) | XP_011531394.1:n.*459_*462del | |
| XM_017004414.2:c.1093_1096del (FANCL) | XP_016859903.1:p.Gln365ValfsTer18 | |
| XM_017004416.1:c.697_700del (FANCL) | XP_016859905.1:p.Gln233ValfsTer15 | |
| XM_017004858.2:c.*836_*839del (VRK2) | XP_016860347.1:n.*836_*839del | |
| XM_017004859.2:c.*459_*462del (VRK2) | XP_016860348.1:n.*459_*462del | |
| XM_017004860.2:c.*459_*462del (VRK2) | XP_016860349.1:n.*459_*462del | |
| XM_017004861.2:c.*459_*462del (VRK2) | XP_016860350.1:n.*459_*462del | |
| XM_017004862.2:c.*459_*462del (VRK2) | XP_016860351.1:n.*459_*462del | |
| XM_017004863.2:c.*459_*462del (VRK2) | XP_016860352.1:n.*459_*462del | |
| XM_017004864.2:c.*836_*839del (VRK2) | XP_016860353.1:n.*836_*839del | |
| XM_017004865.1:c.*844_*847del (VRK2) | XP_016860354.1:n.*844_*847del | |
| XM_017004866.1:c.*844_*847del (VRK2) | XP_016860355.1:n.*844_*847del | |
| XR_001738802.2:n.994_997del (FANCL) | ||
| XR_001738803.2:n.979_982del (FANCL) | ||
| XR_002959309.1:n.1690_1693del (FANCL) | ||
| XR_939692.2:n.1039_1042del (FANCL) | ||
| NM_001374615.1:c.1093_1096del (FANCL) | NP_001361544.1:p.Gln365ValfsTer18 | |
| NM_018062.4:c.1048_1051del (FANCL) MANE Select | NP_060532.2:p.Gln350ValfsTer18 | |
| NR_164659.1:n.929_932del (FANCL) |