Canonical Allele Identifier: CA2580617841
Gene: IKBKG HGNC NCBI

Linked Data

ClinVar Variation Id: 2579743
ClinVar RCV Id: RCV003328543

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154556340_154556344del , CM000685.2:g.154556340_154556344del GRCh38
NC_000023.10:g.153784555_153784559del , CM000685.1:g.153784555_153784559del GRCh37
NC_000023.9:g.153437749_153437753del NCBI36
NG_009896.1:g.19097_19101del , LRG_70:g.19097_19101del

Transcript Alleles

HGVS Amino-acid Change
ENST00000413620.6:c.327_331del ENSP00000398579.2:p.Leu110GlyfsTer14
ENST00000422680.6:c.363_367del ENSP00000390368.3:p.Leu122GlyfsTer14
ENST00000440286.6:c.363_367del ENSP00000394934.2:p.Leu122GlyfsTer14
ENST00000445622.6:c.363_367del ENSP00000395205.2:p.Leu122GlyfsTer14
ENST00000492469.3:c.363_367del ENSP00000484275.2:p.Leu122GlyfsTer?
ENST00000615186.5:c.-40_-36del ENSP00000479144.2:n.-40_-36del
ENST00000686378.1:c.363_367del ENSP00000509444.1:p.Leu122GlyfsTer19
ENST00000686774.1:c.363_367del ENSP00000510218.1:p.Leu122GlyfsTer14
ENST00000687445.1:n.738_742del
ENST00000689906.1:c.363_367del ENSP00000508630.1:p.Leu122GlyfsTer14
ENST00000692816.1:n.738_742del
ENST00000692948.1:c.363_367del ENSP00000508773.1:p.Leu122GlyfsTer14
ENST00000693029.1:n.738_742del
ENST00000594239.6:c.363_367del MANE Select ENSP00000471166.1:p.Leu122GlyfsTer14
ENST00000413620.5:c.327_331del ENSP00000398579.1:p.Leu110GlyfsTer14
ENST00000422680.5:c.363_367del ENSP00000390368.2:p.Leu122GlyfsTer14
ENST00000440286.5:c.363_367del ENSP00000394934.1:p.Leu122GlyfsTer14
ENST00000445622.5:c.363_367del ENSP00000395205.1:p.Leu122GlyfsTer14
ENST00000492469.2:c.195_199del ENSP00000484275.1:p.Leu66GlyfsTer?
ENST00000594239.5:c.363_367del ENSP00000471166.1:p.Leu122GlyfsTer14
ENST00000611071.4:c.363_367del ENSP00000479662.1:p.Leu122GlyfsTer14
ENST00000611176.4:c.363_367del ENSP00000478616.1:p.Leu122GlyfsTer14
ENST00000612051.1:c.*355_*359del ENSP00000480431.1:n.*355_*359del
ENST00000615186.4:c.-40_-36del ENSP00000479144.1:n.-40_-36del
ENST00000615874.4:c.363_367del ENSP00000483381.1:p.Leu122GlyfsTer13
ENST00000617207.4:c.363_367del ENSP00000484023.1:p.Leu122GlyfsTer13
ENST00000617838.1:n.199+4151_199+4155del
ENST00000618670.4:c.567_571del ENSP00000483825.1:p.Leu190GlyfsTer14
ENST00000619941.4:c.363_367del ENSP00000478979.1:p.Leu122GlyfsTer14
NM_001099856.3:c.567_571del NP_001093326.2:p.Leu190GlyfsTer14
NM_001099857.2:c.363_367del NP_001093327.1:p.Leu122GlyfsTer14
NM_001145255.2:c.363_367del NP_001138727.1:p.Leu122GlyfsTer14
NM_003639.4:c.363_367del NP_003630.1:p.Leu122GlyfsTer14
XM_005274760.3:c.567_571del XP_005274817.1:p.Leu190GlyfsTer13
XM_005274761.3:c.567_571del XP_005274818.1:p.Leu190GlyfsTer14
XM_005274764.3:c.363_367del XP_005274821.1:p.Leu122GlyfsTer13
XM_011531203.1:c.567_571del XP_011529505.1:p.Leu190GlyfsTer14
XM_011531204.1:c.363_367del XP_011529506.1:p.Leu122GlyfsTer14
XM_011531205.1:c.363_367del XP_011529507.1:p.Leu122GlyfsTer14
XM_011531206.1:c.567_571del XP_011529508.1:p.Leu190GlyfsTer14
XM_011531207.1:c.567_571del XP_011529509.1:p.Leu190GlyfsTer14
NM_001099856.4:c.567_571del NP_001093326.2:p.Leu190GlyfsTer14
NM_001321396.1:c.363_367del NP_001308325.1:p.Leu122GlyfsTer14
NM_001321397.1:c.363_367del NP_001308326.1:p.Leu122GlyfsTer13
NM_001099856.6:c.567_571del NP_001093326.2:p.Leu190GlyfsTer14
NM_001099857.4:c.363_367del NP_001093327.1:p.Leu122GlyfsTer14
NM_001145255.4:c.363_367del NP_001138727.1:p.Leu122GlyfsTer14
NM_001321396.3:c.363_367del NP_001308325.1:p.Leu122GlyfsTer14
NM_001321397.3:c.363_367del NP_001308326.1:p.Leu122GlyfsTer13
NM_001377312.1:c.363_367del NP_001364241.1:p.Leu122GlyfsTer14
NM_001377313.1:c.363_367del NP_001364242.1:p.Leu122GlyfsTer13
NM_001377314.1:c.363_367del NP_001364243.1:p.Leu122GlyfsTer13
NM_001377315.1:c.363_367del NP_001364244.1:p.Leu122GlyfsTer?
NR_165197.1:n.504_508del
NM_001099857.5:c.363_367del MANE Select NP_001093327.1:p.Leu122GlyfsTer14