Canonical Allele Identifier: CA1139667925
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 11458
ClinVar RCV Id: RCV000012213
dbSNP Id: rs2071167272

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564367_154564379dup , CM000685.2:g.154564367_154564379dup GRCh38
NC_000023.10:g.153792582_153792594dup , CM000685.1:g.153792582_153792594dup GRCh37
NC_000023.9:g.153445776_153445788dup NCBI36
NG_009896.1:g.27124_27136dup , LRG_70:g.27124_27136dup

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1130_1142dup ENSP00000398579.2:p.Asp382ArgfsTer5
ENST00000422680.6:c.1166_1178dup ENSP00000390368.3:p.Asp394ArgfsTer5
ENST00000440286.6:c.1166_1178dup ENSP00000394934.2:p.Asp394ArgfsTer5
ENST00000445622.6:c.1166_1178dup ENSP00000395205.2:p.Asp394ArgfsTer5
ENST00000615186.5:c.764_776dup ENSP00000479144.2:p.Asp260ArgfsTer5
ENST00000689906.1:c.1013_1025dup ENSP00000508630.1:p.Asp343ArgfsTer5
ENST00000692948.1:c.1223_1235dup ENSP00000508773.1:p.Asp413ArgfsTer5
ENST00000594239.6:c.1166_1178dup MANE Select ENSP00000471166.1:p.Asp394ArgfsTer5
ENST00000594239.5:c.1166_1178dup ENSP00000471166.1:p.Asp394ArgfsTer5
ENST00000611071.4:c.1166_1178dup ENSP00000479662.1:p.Asp394ArgfsTer5
ENST00000611176.4:c.869_881dup ENSP00000478616.1:p.Asp295ArgfsTer5
ENST00000612051.1:c.*1158_*1170dup ENSP00000480431.1:n.*1158_*1170dup
ENST00000615874.4:c.1142_1154dup ENSP00000483381.1:p.Asp386ArgfsTer5
ENST00000617207.4:c.1163_1175dup ENSP00000484023.1:p.Asp393ArgfsTer5
ENST00000618670.4:c.1370_1382dup ENSP00000483825.1:p.Asp462ArgfsTer5
ENST00000619941.4:c.1145_1157dup ENSP00000478979.1:p.Asp387ArgfsTer5
NM_001099856.3:c.1370_1382dup NP_001093326.2:p.Asp462ArgfsTer5
NM_001099857.2:c.1166_1178dup NP_001093327.1:p.Asp394ArgfsTer5
NM_001145255.2:c.869_881dup NP_001138727.1:p.Asp295ArgfsTer5
NM_003639.4:c.1166_1178dup NP_003630.1:p.Asp394ArgfsTer5
XM_005274760.3:c.1367_1379dup XP_005274817.1:p.Asp461ArgfsTer5
XM_005274761.3:c.1321+347_1321+359dup XP_005274818.1:n.1321+347_1321+359dup
XM_005274764.3:c.1163_1175dup XP_005274821.1:p.Asp393ArgfsTer5
XM_011531203.1:c.1217_1229dup XP_011529505.1:p.Asp411ArgfsTer5
XM_011531204.1:c.1166_1178dup XP_011529506.1:p.Asp394ArgfsTer5
XM_011531205.1:c.1166_1178dup XP_011529507.1:p.Asp394ArgfsTer5
NM_001099856.4:c.1370_1382dup NP_001093326.2:p.Asp462ArgfsTer5
NM_001321396.1:c.1166_1178dup NP_001308325.1:p.Asp394ArgfsTer5
NM_001321397.1:c.1163_1175dup NP_001308326.1:p.Asp393ArgfsTer5
NM_001099856.6:c.1370_1382dup NP_001093326.2:p.Asp462ArgfsTer5
NM_001099857.4:c.1166_1178dup NP_001093327.1:p.Asp394ArgfsTer5
NM_001145255.4:c.869_881dup NP_001138727.1:p.Asp295ArgfsTer5
NM_001321396.3:c.1166_1178dup NP_001308325.1:p.Asp394ArgfsTer5
NM_001321397.3:c.1163_1175dup NP_001308326.1:p.Asp393ArgfsTer5
NM_001377312.1:c.1166_1178dup NP_001364241.1:p.Asp394ArgfsTer5
NM_001377313.1:c.1163_1175dup NP_001364242.1:p.Asp393ArgfsTer5
NM_001377314.1:c.1010_1022dup NP_001364243.1:p.Asp342ArgfsTer5
NM_001377315.1:c.797_809dup NP_001364244.1:p.Asp271ArgfsTer5
NR_165197.1:n.1035_1047dup
NM_001099857.5:c.1166_1178dup MANE Select NP_001093327.1:p.Asp394ArgfsTer5