Canonical Allele Identifier: CA10566455

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 372387
• ClinVar RCV Id: RCV000012209 ; RCV000413717 ; RCV001172473 ; RCV002506000
• dbSNP Id: rs782178147
• ExAC: X:153792576 G / GC
• gnomAD v2: X-153792576-G-GC
• MyVariant Identifiers: chrX:g.153792583dupC (hg19) ; chrX:g.153792577_153792578insC (hg19) ; chrX:g.153792576_153792577insC (hg19) ; chrX:g.154564368dupC (hg38) ; chrX:g.154564361_154564362insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.154564368dup , CM000685.2:g.154564368dup	GRCh38
NC_000023.10:g.153792583dup , CM000685.1:g.153792583dup	GRCh37
NC_000023.9:g.153445777dup	NCBI36
NG_009896.1:g.27125dup , LRG_70:g.27125dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000413620.6:c.1131dup	ENSP00000398579.2:p.Glu378ArgfsTer5
ENST00000422680.6:c.1167dup	ENSP00000390368.3:p.Glu390ArgfsTer5
ENST00000440286.6:c.1167dup	ENSP00000394934.2:p.Glu390ArgfsTer5
ENST00000445622.6:c.1167dup	ENSP00000395205.2:p.Glu390ArgfsTer5
ENST00000615186.5:c.765dup	ENSP00000479144.2:p.Glu256ArgfsTer5
ENST00000689906.1:c.1014dup	ENSP00000508630.1:p.Glu339ArgfsTer5
ENST00000692948.1:c.1224dup	ENSP00000508773.1:p.Glu409ArgfsTer5
ENST00000594239.6:c.1167dup MANE Select	ENSP00000471166.1:p.Glu390ArgfsTer5
ENST00000594239.5:c.1167dup	ENSP00000471166.1:p.Glu390ArgfsTer5
ENST00000611071.4:c.1167dup	ENSP00000479662.1:p.Glu390ArgfsTer5
ENST00000611176.4:c.870dup	ENSP00000478616.1:p.Glu291ArgfsTer5
ENST00000612051.1:c.*1159dup	ENSP00000480431.1:n.*1159dup
ENST00000615874.4:c.1143dup	ENSP00000483381.1:p.Glu382ArgfsTer5
ENST00000617207.4:c.1164dup	ENSP00000484023.1:p.Glu389ArgfsTer5
ENST00000618670.4:c.1371dup	ENSP00000483825.1:p.Glu458ArgfsTer5
ENST00000619941.4:c.1146dup	ENSP00000478979.1:p.Glu383ArgfsTer5
NM_001099856.3:c.1371dup	NP_001093326.2:p.Glu458ArgfsTer5
NM_001099857.2:c.1167dup	NP_001093327.1:p.Glu390ArgfsTer5
NM_001145255.2:c.870dup	NP_001138727.1:p.Glu291ArgfsTer5
NM_003639.4:c.1167dup	NP_003630.1:p.Glu390ArgfsTer5
XM_005274760.3:c.1368dup	XP_005274817.1:p.Glu457ArgfsTer5
XM_005274761.3:c.1321+348dup	XP_005274818.1:n.1321+348dup
XM_005274764.3:c.1164dup	XP_005274821.1:p.Glu389ArgfsTer5
XM_011531203.1:c.1218dup	XP_011529505.1:p.Glu407ArgfsTer5
XM_011531204.1:c.1167dup	XP_011529506.1:p.Glu390ArgfsTer5
XM_011531205.1:c.1167dup	XP_011529507.1:p.Glu390ArgfsTer5
NM_001099856.4:c.1371dup	NP_001093326.2:p.Glu458ArgfsTer5
NM_001321396.1:c.1167dup	NP_001308325.1:p.Glu390ArgfsTer5
NM_001321397.1:c.1164dup	NP_001308326.1:p.Glu389ArgfsTer5
NM_001099856.6:c.1371dup	NP_001093326.2:p.Glu458ArgfsTer5
NM_001099857.4:c.1167dup	NP_001093327.1:p.Glu390ArgfsTer5
NM_001145255.4:c.870dup	NP_001138727.1:p.Glu291ArgfsTer5
NM_001321396.3:c.1167dup	NP_001308325.1:p.Glu390ArgfsTer5
NM_001321397.3:c.1164dup	NP_001308326.1:p.Glu389ArgfsTer5
NM_001377312.1:c.1167dup	NP_001364241.1:p.Glu390ArgfsTer5
NM_001377313.1:c.1164dup	NP_001364242.1:p.Glu389ArgfsTer5
NM_001377314.1:c.1011dup	NP_001364243.1:p.Glu338ArgfsTer5
NM_001377315.1:c.798dup	NP_001364244.1:p.Glu267ArgfsTer5
NR_165197.1:n.1036dup
NM_001099857.5:c.1167dup MANE Select	NP_001093327.1:p.Glu390ArgfsTer5