Canonical Allele Identifier: CA7043715
Gene: LIG4 HGNC NCBI

Linked Data

ClinVar Variation Id: 279838
dbSNP Id: rs772226399

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.108209995_108209999del , CM000675.2:g.108209995_108209999del GRCh38
NC_000013.10:g.108862343_108862347del , CM000675.1:g.108862343_108862347del GRCh37
NC_000013.9:g.107660344_107660348del NCBI36
NG_007396.1:g.10537_10541del , LRG_79:g.10537_10541del

Transcript Alleles

HGVS Amino-acid change
ENST00000614526.2:c.1070_1074del ENSP00000480814.1:p.Lys357ArgfsTer20
ENST00000685338.1:c.1271_1275del ENSP00000510567.1:p.Lys424ArgfsTer20
ENST00000686095.1:c.1271_1275del ENSP00000509942.1:p.Lys424ArgfsTer20
ENST00000686204.1:c.1271_1275del ENSP00000509685.1:p.Lys424ArgfsTer20
ENST00000686913.1:c.1271_1275del ENSP00000509299.1:p.Lys424ArgfsTer20
ENST00000686926.1:c.1271_1275del ENSP00000509122.1:p.Lys424ArgfsTer20
ENST00000687164.1:c.1271_1275del ENSP00000508512.1:p.Lys424ArgfsTer20
ENST00000687822.1:c.1271_1275del ENSP00000509344.1:p.Lys424ArgfsTer20
ENST00000688396.1:c.1271_1275del ENSP00000509564.1:p.Lys424ArgfsTer20
ENST00000688455.1:c.1271_1275del ENSP00000509304.1:p.Lys424ArgfsTer20
ENST00000688529.1:c.1271_1275del ENSP00000509906.1:p.Lys424ArgfsTer20
ENST00000688595.1:c.1271_1275del ENSP00000509502.1:p.Lys424ArgfsTer20
ENST00000689762.1:c.1070_1074del ENSP00000508867.1:p.Lys357ArgfsTer20
ENST00000690127.1:c.1070_1074del ENSP00000509468.1:p.Lys357ArgfsTer20
ENST00000692222.1:c.1271_1275del ENSP00000509226.1:p.Lys424ArgfsTer20
ENST00000693040.1:c.1271_1275del ENSP00000510014.1:p.Lys424ArgfsTer20
ENST00000442234.6:c.1271_1275del MANE Select ENSP00000402030.1:p.Lys424ArgfsTer20
ENST00000356922.5:c.1271_1275del ENSP00000349393.3:p.Lys424ArgfsTer20
ENST00000405925.2:c.1271_1275del ENSP00000385955.1:p.Lys424ArgfsTer20
ENST00000442234.5:c.1271_1275del ENSP00000402030.1:p.Lys424ArgfsTer20
ENST00000611712.4:c.1271_1275del ENSP00000484288.1:p.Lys424ArgfsTer20
ENST00000614526.1:c.1070_1074del ENSP00000480814.1:p.Lys357ArgfsTer20
NM_001098268.1:c.1271_1275del NP_001091738.1:p.Lys424ArgfsTer20
NM_002312.3:c.1271_1275del , LRG_79t1:c.1271_1275del NP_002303.2:p.Lys424ArgfsTer20
NM_206937.1:c.1271_1275del NP_996820.1:p.Lys424ArgfsTer20
XM_005254056.1:c.1271_1275del XP_005254113.1:p.Lys424ArgfsTer20
XM_005254057.3:c.1271_1275del XP_005254114.1:p.Lys424ArgfsTer20
XM_005254058.2:c.1271_1275del XP_005254115.1:p.Lys424ArgfsTer20
XM_006719951.2:c.1271_1275del XP_006720014.1:p.Lys424ArgfsTer20
XM_006719952.1:c.1271_1275del XP_006720015.1:p.Lys424ArgfsTer20
XM_011521091.1:c.1271_1275del XP_011519393.1:p.Lys424ArgfsTer20
XM_011521092.1:c.1271_1275del XP_011519394.1:p.Lys424ArgfsTer20
NM_001330595.1:c.1070_1074del NP_001317524.1:p.Lys357ArgfsTer20
NM_001352598.1:c.1271_1275del NP_001339527.1:p.Lys424ArgfsTer20
NM_001352599.1:c.1271_1275del NP_001339528.1:p.Lys424ArgfsTer20
NM_001352600.1:c.1271_1275del NP_001339529.1:p.Lys424ArgfsTer20
NM_001352601.1:c.1271_1275del NP_001339530.1:p.Lys424ArgfsTer20
NM_001352602.1:c.1271_1275del NP_001339531.1:p.Lys424ArgfsTer20
NM_001352603.1:c.1271_1275del NP_001339532.1:p.Lys424ArgfsTer20
NM_001352604.1:c.1307_1311del NP_001339533.1:p.Lys436ArgfsTer20
XM_005254058.4:c.1271_1275del XP_005254115.1:p.Lys424ArgfsTer20
XM_006719951.3:c.1271_1275del XP_006720014.1:p.Lys424ArgfsTer20
XM_017020564.1:c.1307_1311del XP_016876053.1:p.Lys436ArgfsTer20
XM_017020565.1:c.1307_1311del XP_016876054.1:p.Lys436ArgfsTer20
XM_017020566.1:c.1307_1311del XP_016876055.1:p.Lys436ArgfsTer20
XM_017020568.2:c.1283_1287del XP_016876057.1:p.Lys428ArgfsTer20
XM_017020571.1:c.1271_1275del XP_016876060.1:p.Lys424ArgfsTer20
XM_017020573.1:c.1070_1074del XP_016876062.1:p.Lys357ArgfsTer20
NM_001098268.2:c.1271_1275del NP_001091738.1:p.Lys424ArgfsTer20
NM_001352598.2:c.1271_1275del NP_001339527.1:p.Lys424ArgfsTer20
NM_001352599.2:c.1271_1275del NP_001339528.1:p.Lys424ArgfsTer20
NM_001352600.2:c.1271_1275del NP_001339529.1:p.Lys424ArgfsTer20
NM_001352601.2:c.1271_1275del NP_001339530.1:p.Lys424ArgfsTer20
NM_001352602.2:c.1271_1275del NP_001339531.1:p.Lys424ArgfsTer20
NM_206937.2:c.1271_1275del MANE Select NP_996820.1:p.Lys424ArgfsTer20
NM_001330595.2:c.1070_1074del NP_001317524.1:p.Lys357ArgfsTer20
NM_001352604.2:c.1307_1311del NP_001339533.1:p.Lys436ArgfsTer20
NM_001379095.1:c.1271_1275del NP_001366024.1:p.Lys424ArgfsTer20