Canonical Allele Identifier: CA519287162

Gene: IKBKG

Linked Data

• ClinVar Variation Id: 1220510
• ClinVar RCV Id: RCV001592768
• dbSNP Id: rs782178147
• MyVariant Identifiers: chrX:g.153792577del (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000413620.6:c.1131del	ENSP00000398579.2:p.Glu378ArgfsTer?
ENST00000422680.6:c.1167del	ENSP00000390368.3:p.Glu390ArgfsTer?
ENST00000440286.6:c.1167del	ENSP00000394934.2:p.Glu390ArgfsTer?
ENST00000445622.6:c.1167del	ENSP00000395205.2:p.Glu390ArgfsTer?
ENST00000615186.5:c.765del	ENSP00000479144.2:p.Glu256ArgfsTer?
ENST00000689906.1:c.1014del	ENSP00000508630.1:p.Glu339ArgfsTer?
ENST00000692948.1:c.1224del	ENSP00000508773.1:p.Glu409ArgfsTer?
ENST00000594239.6:c.1167del MANE Select	ENSP00000471166.1:p.Glu390ArgfsTer?
ENST00000594239.5:c.1167del	ENSP00000471166.1:p.Glu390ArgfsTer?
ENST00000611071.4:c.1167del	ENSP00000479662.1:p.Glu390ArgfsTer?
ENST00000611176.4:c.870del	ENSP00000478616.1:p.Glu291ArgfsTer?
ENST00000612051.1:c.*1159del	ENSP00000480431.1:n.*1159del
ENST00000615874.4:c.1143del	ENSP00000483381.1:p.Glu382ArgfsTer?
ENST00000617207.4:c.1164del	ENSP00000484023.1:p.Glu389ArgfsTer?
ENST00000618670.4:c.1371del	ENSP00000483825.1:p.Glu458ArgfsTer?
ENST00000619941.4:c.1146del	ENSP00000478979.1:p.Glu383ArgfsTer?
NM_001099856.3:c.1371del	NP_001093326.2:p.Glu458ArgfsTer?
NM_001099857.2:c.1167del	NP_001093327.1:p.Glu390ArgfsTer?
NM_001145255.2:c.870del	NP_001138727.1:p.Glu291ArgfsTer?
NM_003639.4:c.1167del	NP_003630.1:p.Glu390ArgfsTer?
XM_005274760.3:c.1368del	XP_005274817.1:p.Glu457ArgfsTer?
XM_005274761.3:c.1321+348del	XP_005274818.1:n.1321+348del
XM_005274764.3:c.1164del	XP_005274821.1:p.Glu389ArgfsTer?
XM_011531203.1:c.1218del	XP_011529505.1:p.Glu407ArgfsTer?
XM_011531204.1:c.1167del	XP_011529506.1:p.Glu390ArgfsTer?
XM_011531205.1:c.1167del	XP_011529507.1:p.Glu390ArgfsTer?
NM_001099856.4:c.1371del	NP_001093326.2:p.Glu458ArgfsTer?
NM_001321396.1:c.1167del	NP_001308325.1:p.Glu390ArgfsTer?
NM_001321397.1:c.1164del	NP_001308326.1:p.Glu389ArgfsTer?
NM_001099856.6:c.1371del	NP_001093326.2:p.Glu458ArgfsTer?
NM_001099857.4:c.1167del	NP_001093327.1:p.Glu390ArgfsTer?
NM_001145255.4:c.870del	NP_001138727.1:p.Glu291ArgfsTer?
NM_001321396.3:c.1167del	NP_001308325.1:p.Glu390ArgfsTer?
NM_001321397.3:c.1164del	NP_001308326.1:p.Glu389ArgfsTer?
NM_001377312.1:c.1167del	NP_001364241.1:p.Glu390ArgfsTer?
NM_001377313.1:c.1164del	NP_001364242.1:p.Glu389ArgfsTer?
NM_001377314.1:c.1011del	NP_001364243.1:p.Glu338ArgfsTer?
NM_001377315.1:c.798del	NP_001364244.1:p.Glu267ArgfsTer?
NR_165197.1:n.1036del
NM_001099857.5:c.1167del MANE Select	NP_001093327.1:p.Glu390ArgfsTer?