Canonical Allele Identifier: CA16043194
Gene: IKBKG HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 372591
ClinVar RCV Id: RCV000413129
dbSNP Id: rs1057517874

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154556197del , CM000685.2:g.154556197del GRCh38
NC_000023.10:g.153784412del , CM000685.1:g.153784412del GRCh37
NC_000023.9:g.153437606del NCBI36
NG_009896.1:g.18954del , LRG_70:g.18954del

Transcript Alleles

HGVS Amino-acid change
NM_001099856.3:c.424del VV NP_001093326.2:p.Glu142SerfsTer?
NM_001099857.2:c.220del VV NP_001093327.1:p.Glu74SerfsTer?
NM_001145255.2:c.220del VV NP_001138727.1:p.Glu74SerfsTer?
NM_003639.4:c.220del VV NP_003630.1:p.Glu74SerfsTer?
XM_005274760.3:c.424del XP_005274817.1:p.Glu142SerfsTer?
XM_005274761.3:c.424del XP_005274818.1:p.Glu142SerfsTer?
XM_005274764.3:c.220del XP_005274821.1:p.Glu74SerfsTer?
XM_011531203.1:c.424del XP_011529505.1:p.Glu142SerfsTer?
XM_011531204.1:c.220del XP_011529506.1:p.Glu74SerfsTer?
XM_011531205.1:c.220del XP_011529507.1:p.Glu74SerfsTer?
XM_011531206.1:c.424del XP_011529508.1:p.Glu142SerfsTer?
XM_011531207.1:c.424del XP_011529509.1:p.Glu142SerfsTer?
NM_001099856.4:c.424del VV NP_001093326.2:p.Glu142SerfsTer?
NM_001321396.1:c.220del VV NP_001308325.1:p.Glu74SerfsTer?
NM_001321397.1:c.220del VV NP_001308326.1:p.Glu74SerfsTer?
ENST00000413620.5:c.184del ENSP00000398579.1:p.Glu62SerfsTer?
ENST00000422680.5:c.220del ENSP00000390368.2:p.Glu74SerfsTer?
ENST00000440286.5:c.220del ENSP00000394934.1:p.Glu74SerfsTer?
ENST00000445622.5:c.220del ENSP00000395205.1:p.Glu74SerfsTer?
ENST00000492469.2:n.52del ENSP00000484275.1:p.Glu18SerfsTer?
ENST00000594239.5:c.220del ENSP00000471166.1:p.Glu74SerfsTer?
ENST00000611071.4:c.220del ENSP00000479662.1:p.Glu74SerfsTer?
ENST00000611176.4:c.220del ENSP00000478616.1:p.Glu74SerfsTer?
ENST00000612051.1:c.*212del ENSP00000480431.1:p.=
ENST00000615186.4:c.-87-96del ENSP00000479144.1:p.=
ENST00000615874.4:c.220del ENSP00000483381.1:p.Glu74SerfsTer?
ENST00000617207.4:c.220del ENSP00000484023.1:p.Glu74SerfsTer?
ENST00000617838.1:n.199+4008del
ENST00000618670.4:c.424del ENSP00000483825.1:p.Glu142SerfsTer?
ENST00000619941.4:c.220del ENSP00000478979.1:p.Glu74SerfsTer?