Canonical Allele Identifier: CA16621263
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 420195
ClinVar RCV Id: RCV000482645
dbSNP Id: rs1064794340

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154564008_154564009insG , CM000685.2:g.154564008_154564009insG GRCh38
NC_000023.10:g.153792223_153792224insG , CM000685.1:g.153792223_153792224insG GRCh37
NC_000023.9:g.153445417_153445418insG NCBI36
NG_009896.1:g.26765_26766insG , LRG_70:g.26765_26766insG

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.1069_1070insG ENSP00000398579.2:p.Pro357ArgfsTer26
ENST00000422680.6:c.1105_1106insG ENSP00000390368.3:p.Pro369ArgfsTer26
ENST00000440286.6:c.1105_1106insG ENSP00000394934.2:p.Pro369ArgfsTer26
ENST00000445622.6:c.1105_1106insG ENSP00000395205.2:p.Pro369ArgfsTer26
ENST00000615186.5:c.703_704insG ENSP00000479144.2:p.Pro235ArgfsTer26
ENST00000687445.1:n.2502_2503insG
ENST00000689906.1:c.952_953insG ENSP00000508630.1:p.Pro318ArgfsTer26
ENST00000692948.1:c.1162_1163insG ENSP00000508773.1:p.Pro388ArgfsTer26
ENST00000693029.1:n.2762_2763insG
ENST00000594239.6:c.1105_1106insG MANE Select ENSP00000471166.1:p.Pro369ArgfsTer26
ENST00000594239.5:c.1105_1106insG ENSP00000471166.1:p.Pro369ArgfsTer26
ENST00000611071.4:c.1105_1106insG ENSP00000479662.1:p.Pro369ArgfsTer26
ENST00000611176.4:c.808_809insG ENSP00000478616.1:p.Pro270ArgfsTer26
ENST00000612051.1:c.*1097_*1098insG ENSP00000480431.1:n.*1097_*1098insG
ENST00000615874.4:c.1081_1082insG ENSP00000483381.1:p.Pro361ArgfsTer26
ENST00000617207.4:c.1102_1103insG ENSP00000484023.1:p.Pro368ArgfsTer26
ENST00000618670.4:c.1309_1310insG ENSP00000483825.1:p.Pro437ArgfsTer26
ENST00000619941.4:c.1084_1085insG ENSP00000478979.1:p.Pro362ArgfsTer26
NM_001099856.3:c.1309_1310insG NP_001093326.2:p.Pro437ArgfsTer26
NM_001099857.2:c.1105_1106insG NP_001093327.1:p.Pro369ArgfsTer26
NM_001145255.2:c.808_809insG NP_001138727.1:p.Pro270ArgfsTer26
NM_003639.4:c.1105_1106insG NP_003630.1:p.Pro369ArgfsTer26
XM_005274760.3:c.1306_1307insG XP_005274817.1:p.Pro436ArgfsTer26
XM_005274761.3:c.1309_1310insG XP_005274818.1:p.Pro437ArgfsTer?
XM_005274764.3:c.1102_1103insG XP_005274821.1:p.Pro368ArgfsTer26
XM_011531203.1:c.1156_1157insG XP_011529505.1:p.Pro386ArgfsTer26
XM_011531204.1:c.1105_1106insG XP_011529506.1:p.Pro369ArgfsTer26
XM_011531205.1:c.1105_1106insG XP_011529507.1:p.Pro369ArgfsTer26
NM_001099856.4:c.1309_1310insG NP_001093326.2:p.Pro437ArgfsTer26
NM_001321396.1:c.1105_1106insG NP_001308325.1:p.Pro369ArgfsTer26
NM_001321397.1:c.1102_1103insG NP_001308326.1:p.Pro368ArgfsTer26
NM_001099856.6:c.1309_1310insG NP_001093326.2:p.Pro437ArgfsTer26
NM_001099857.4:c.1105_1106insG NP_001093327.1:p.Pro369ArgfsTer26
NM_001145255.4:c.808_809insG NP_001138727.1:p.Pro270ArgfsTer26
NM_001321396.3:c.1105_1106insG NP_001308325.1:p.Pro369ArgfsTer26
NM_001321397.3:c.1102_1103insG NP_001308326.1:p.Pro368ArgfsTer26
NM_001377312.1:c.1105_1106insG NP_001364241.1:p.Pro369ArgfsTer26
NM_001377313.1:c.1102_1103insG NP_001364242.1:p.Pro368ArgfsTer26
NM_001377314.1:c.949_950insG NP_001364243.1:p.Pro317ArgfsTer26
NM_001377315.1:c.736_737insG NP_001364244.1:p.Pro246ArgfsTer26
NR_165197.1:n.974_975insG
NM_001099857.5:c.1105_1106insG MANE Select NP_001093327.1:p.Pro369ArgfsTer26