Canonical Allele Identifier: CA891843376

Linked Data

ClinVar Variation Id: 572699
ClinVar RCV Id: RCV000694144
dbSNP Id: rs1558727300

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.58160108_58160112del , CM000664.2:g.58160108_58160112del GRCh38
NC_000002.11:g.58387243_58387247del , CM000664.1:g.58387243_58387247del GRCh37
NC_000002.10:g.58240747_58240751del NCBI36
NG_007418.1:g.86273_86277del , LRG_501:g.86273_86277del
NG_029717.2:g.257368_257372del

Transcript Alleles

HGVS Amino-acid Change
ENST00000402135.8:c.1107+1_1107+5del (FANCL)
ENST00000403295.8:c.1008+1_1008+5del (FANCL)
ENST00000403676.6:c.*655+1_*655+5del (FANCL)
ENST00000417361.2:c.*670+1_*670+5del (FANCL)
ENST00000427708.7:c.1137+1_1137+5del (FANCL)
ENST00000446381.6:c.648+1_648+5del (FANCL)
ENST00000449070.6:c.915+1_915+5del (FANCL)
ENST00000470506.2:n.1606+1_1606+5del (FANCL)
ENST00000696305.1:c.1035+1_1035+5del (FANCL)
ENST00000696306.1:c.*982+1_*982+5del (FANCL)
ENST00000696307.1:c.1077+1_1077+5del (FANCL)
ENST00000696314.1:c.*145+1_*145+5del (FANCL)
ENST00000696315.1:c.*656_*660del (FANCL) ENSP00000512553.1:n.*656_*660del
ENST00000696316.1:c.975+1_975+5del (FANCL)
ENST00000696317.1:c.*65+1_*65+5del (FANCL)
ENST00000696318.1:c.*146_*150del (FANCL) ENSP00000512556.1:n.*146_*150del
ENST00000696319.1:c.1050+1_1050+5del (FANCL)
ENST00000696320.1:n.2771+1_2771+5del (FANCL)
ENST00000696324.1:c.*542+1_*542+5del (FANCL)
ENST00000696325.1:n.4175+1_4175+5del (FANCL)
ENST00000696326.1:c.1152+1_1152+5del (FANCL)
ENST00000696338.1:n.1206+1_1206+5del (FANCL)
ENST00000696339.1:n.2665_2669del (FANCL)
ENST00000696340.1:n.3318+1_3318+5del (FANCL)
ENST00000696341.1:n.1600+1_1600+5del (FANCL)
ENST00000696342.1:c.*2323_*2327del (FANCL) ENSP00000512569.1:n.*2323_*2327del
ENST00000696343.1:n.2952_2956del (FANCL)
ENST00000696344.1:c.*806+1_*806+5del (FANCL)
ENST00000696358.1:n.3765+1_3765+5del (FANCL)
ENST00000696359.1:n.3443_3447del (FANCL)
ENST00000696360.1:n.1877+1_1877+5del (FANCL)
ENST00000696361.1:c.*1095+1_*1095+5del (FANCL)
ENST00000696362.1:c.*542+1_*542+5del (FANCL)
ENST00000696363.1:n.2869+1_2869+5del (FANCL)
ENST00000696364.1:n.1485+1_1485+5del (FANCL)
ENST00000696371.1:c.1083+1_1083+5del (FANCL)
ENST00000696372.1:n.2181+1_2181+5del (FANCL)
ENST00000696373.1:c.*2322+1_*2322+5del (FANCL)
ENST00000696374.1:c.*460+1_*460+5del (FANCL)
ENST00000696375.1:n.8025+1_8025+5del (FANCL)
ENST00000696376.1:n.6878+1_6878+5del (FANCL)
ENST00000696378.1:c.*1110+1_*1110+5del (FANCL)
ENST00000696394.1:n.4594+1_4594+5del (FANCL)
ENST00000696395.1:n.4533+1_4533+5del (FANCL)
ENST00000696396.1:n.2246+1_2246+5del (FANCL)
ENST00000696397.1:n.3218_3222del (FANCL)
ENST00000696398.1:c.*239+1_*239+5del (FANCL)
ENST00000696399.1:n.2366+1_2366+5del (FANCL)
ENST00000696400.1:c.*856+1_*856+5del (FANCL)
ENST00000696409.1:c.*609+1_*609+5del (FANCL)
ENST00000696410.1:c.*573+1_*573+5del (FANCL)
ENST00000696411.1:n.797+1_797+5del (FANCL)
ENST00000696412.1:n.1591+1_1591+5del (FANCL)
ENST00000696413.1:n.1095_1099del (FANCL)
ENST00000696414.1:n.2138+1_2138+5del (FANCL)
ENST00000696415.1:c.*65+1_*65+5del (FANCL)
ENST00000696416.1:n.1101_1105del (FANCL)
ENST00000696432.1:n.3551+1_3551+5del (FANCL)
ENST00000696433.1:c.*145+1_*145+5del (FANCL)
ENST00000696434.1:c.930+1_930+5del (FANCL)
ENST00000696435.1:c.*239+1_*239+5del (FANCL)
ENST00000696436.1:n.1046+1_1046+5del (FANCL)
ENST00000696437.1:n.1510_1514del (FANCL)
ENST00000696438.1:c.*925+1_*925+5del (FANCL)
ENST00000696439.1:n.3141+1_3141+5del (FANCL)
ENST00000696440.1:n.2128+1_2128+5del (FANCL)
ENST00000696454.1:c.*443+1_*443+5del (FANCL)
ENST00000696455.1:c.*145+1_*145+5del (FANCL)
ENST00000696456.1:n.602+1_602+5del (FANCL)
ENST00000696457.1:c.*1863+1_*1863+5del (FANCL)
ENST00000696458.1:c.*65+1_*65+5del (FANCL)
ENST00000696459.1:c.*527+1_*527+5del (FANCL)
ENST00000696460.1:n.1589+1_1589+5del (FANCL)
ENST00000696467.1:c.*588+1_*588+5del (FANCL)
ENST00000696468.1:c.*584+1_*584+5del (FANCL)
ENST00000696469.1:c.*239+1_*239+5del (FANCL)
ENST00000696470.1:n.3260+1_3260+5del (FANCL)
ENST00000696471.1:n.762+1_762+5del (FANCL)
ENST00000696472.1:c.*145+1_*145+5del (FANCL)
ENST00000696473.1:c.*775+1_*775+5del (FANCL)
ENST00000696474.1:n.968+1_968+5del (FANCL)
ENST00000696475.1:n.2600+1_2600+5del (FANCL)
ENST00000696492.1:c.*757+1_*757+5del (FANCL)
ENST00000696493.1:c.*940+1_*940+5del (FANCL)
ENST00000696494.1:n.1124+1_1124+5del (FANCL)
ENST00000696495.1:c.*838+1_*838+5del (FANCL)
ENST00000696496.1:n.1631+1_1631+5del (FANCL)
ENST00000696497.1:n.4389+1_4389+5del (FANCL)
ENST00000696498.1:n.1851+1_1851+5del (FANCL)
ENST00000696499.1:c.*529+1_*529+5del (FANCL)
ENST00000696508.1:c.*647+1_*647+5del (FANCL)
ENST00000696509.1:c.*969+1_*969+5del (FANCL)
ENST00000696510.1:c.564+1_564+5del (FANCL)
ENST00000696527.1:c.*146_*150del (FANCL) ENSP00000512690.1:n.*146_*150del
ENST00000696528.1:c.*145+1_*145+5del (FANCL)
ENST00000696529.1:n.955+1_955+5del (FANCL)
ENST00000696530.1:c.888+1_888+5del (FANCL)
ENST00000696531.1:c.*624+1_*624+5del (FANCL)
ENST00000696532.1:n.2239+1_2239+5del (FANCL)
ENST00000696542.1:n.1030+1_1030+5del (FANCL)
ENST00000696543.1:c.*145+1_*145+5del (FANCL)
ENST00000696544.1:c.*145+1_*145+5del (FANCL)
ENST00000696545.1:c.*760+1_*760+5del (FANCL)
ENST00000696546.1:c.*871+1_*871+5del (FANCL)
ENST00000696547.1:c.1080+1_1080+5del (FANCL)
ENST00000696548.1:c.*1296+1_*1296+5del (FANCL)
ENST00000696564.1:c.*145+1_*145+5del (FANCL)
ENST00000696565.1:c.*145+1_*145+5del (FANCL)
ENST00000696566.1:n.3680+1_3680+5del (FANCL)
ENST00000696567.1:c.987+1_987+5del (FANCL)
ENST00000696568.1:n.518+1_518+5del (FANCL)
ENST00000696569.1:n.1201+1_1201+5del (FANCL)
ENST00000696570.1:c.*414+1_*414+5del (FANCL)
ENST00000696619.1:n.2648+1_2648+5del (FANCL)
ENST00000696620.1:c.684+1_684+5del (FANCL)
ENST00000696621.1:c.*239+1_*239+5del (FANCL)
ENST00000696622.1:n.2823+1_2823+5del (FANCL)
ENST00000696623.1:n.1058+1_1058+5del (FANCL)
ENST00000696624.1:c.1023+1_1023+5del (FANCL)
ENST00000696625.1:c.*542+1_*542+5del (FANCL)
ENST00000696634.1:c.805+1_805+5del (FANCL)
ENST00000696635.1:c.1068+1_1068+5del (FANCL)
ENST00000696636.1:n.3545_3549del (FANCL)
ENST00000696637.1:n.8165+1_8165+5del (FANCL)
ENST00000696638.1:n.1107+1_1107+5del (FANCL)
ENST00000696639.1:n.3171_3175del (FANCL)
ENST00000233741.9:c.1092+1_1092+5del (FANCL)
ENST00000233741.8:c.1092+1_1092+5del (FANCL)
ENST00000402135.7:c.1107+1_1107+5del (FANCL)
ENST00000403295.7:c.1008+1_1008+5del (FANCL)
ENST00000403676.5:c.741+1_741+5del (FANCL)
NM_001114636.1:c.1107+1_1107+5del , LRG_501t1:c.1107+1_1107+5del (FANCL)
NM_018062.3:c.1092+1_1092+5del , LRG_501t2:c.1092+1_1092+5del (FANCL)
XM_005264395.2:c.1093_1097del (FANCL) XP_005264452.1:p.Val365GlnfsTer8
XM_005264397.3:c.741+1_741+5del (FANCL)
XM_011532939.1:c.1153_1157del (FANCL) XP_011531241.1:p.Val385GlnfsTer8
XM_011532940.1:c.1138_1142del (FANCL) XP_011531242.1:p.Val380GlnfsTer8
XM_011532941.1:c.1152+1_1152+5del (FANCL)
XM_011532942.1:c.1108_1112del (FANCL) XP_011531244.1:p.Val370GlnfsTer8
XM_011532943.1:c.1354_1358del (FANCL) XP_011531245.1:p.Val452GlnfsTer8
XM_011532944.1:c.802_806del (FANCL) XP_011531246.1:p.Val268GlnfsTer8
XM_011532945.1:c.757_761del (FANCL) XP_011531247.1:p.Val253GlnfsTer8
XR_939692.1:n.1091+1_1091+5del (FANCL)
NR_156742.1:n.881+1_881+5del (FANCL)
XM_005264395.4:c.1093_1097del (FANCL) XP_005264452.1:p.Val365GlnfsTer8
XM_005264540.4:c.*415_*419del (VRK2) XP_005264597.1:n.*415_*419del
XM_006712090.4:c.*792_*796del (VRK2) XP_006712153.1:n.*792_*796del
XM_006712092.4:c.*415_*419del (VRK2) XP_006712155.1:n.*415_*419del
XM_006712093.4:c.*415_*419del (VRK2) XP_006712156.1:n.*415_*419del
XM_011532939.3:c.1153_1157del (FANCL) XP_011531241.1:p.Val385GlnfsTer8
XM_011532940.3:c.1138_1142del (FANCL) XP_011531242.1:p.Val380GlnfsTer8
XM_011532941.2:c.1152+1_1152+5del (FANCL)
XM_011532942.3:c.1108_1112del (FANCL) XP_011531244.1:p.Val370GlnfsTer8
XM_011532944.2:c.802_806del (FANCL) XP_011531246.1:p.Val268GlnfsTer8
XM_011532945.2:c.757_761del (FANCL) XP_011531247.1:p.Val253GlnfsTer8
XM_011533092.3:c.*415_*419del (VRK2) XP_011531394.1:n.*415_*419del
XM_017004414.2:c.1137+1_1137+5del (FANCL)
XM_017004416.1:c.742_746del (FANCL) XP_016859905.1:p.Val248GlnfsTer8
XM_017004858.2:c.*792_*796del (VRK2) XP_016860347.1:n.*792_*796del
XM_017004859.2:c.*415_*419del (VRK2) XP_016860348.1:n.*415_*419del
XM_017004860.2:c.*415_*419del (VRK2) XP_016860349.1:n.*415_*419del
XM_017004861.2:c.*415_*419del (VRK2) XP_016860350.1:n.*415_*419del
XM_017004862.2:c.*415_*419del (VRK2) XP_016860351.1:n.*415_*419del
XM_017004863.2:c.*415_*419del (VRK2) XP_016860352.1:n.*415_*419del
XM_017004864.2:c.*792_*796del (VRK2) XP_016860353.1:n.*792_*796del
XM_017004865.1:c.*800_*804del (VRK2) XP_016860354.1:n.*800_*804del
XM_017004866.1:c.*800_*804del (VRK2) XP_016860355.1:n.*800_*804del
XR_001738802.2:n.1038+1_1038+5del (FANCL)
XR_001738803.2:n.1023+1_1023+5del (FANCL)
XR_002959309.1:n.1734+1_1734+5del (FANCL)
XR_939692.2:n.1083+1_1083+5del (FANCL)
NM_001374615.1:c.1137+1_1137+5del (FANCL)
NM_018062.4:c.1092+1_1092+5del (FANCL)
NR_164659.1:n.973+1_973+5del (FANCL)