Canonical Allele Identifier: CA2695237076
Gene: IKBKG HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.154560439_154560476del , CM000685.2:g.154560439_154560476del GRCh38
NC_000023.10:g.153788654_153788691del , CM000685.1:g.153788654_153788691del GRCh37
NC_000023.9:g.153441848_153441885del NCBI36
NG_009896.1:g.23196_23233del , LRG_70:g.23196_23233del

Transcript Alleles

HGVS Amino-acid change
ENST00000413620.6:c.515_552del ENSP00000398579.2:p.Leu172ArgfsTer?
ENST00000422680.6:c.551_588del ENSP00000390368.3:p.Leu184ArgfsTer?
ENST00000440286.6:c.551_588del ENSP00000394934.2:p.Leu184ArgfsTer?
ENST00000445622.6:c.551_588del ENSP00000395205.2:p.Leu184ArgfsTer?
ENST00000615186.5:c.149_186del ENSP00000479144.2:p.Leu50ArgfsTer?
ENST00000686774.1:c.*53-1249_*53-1212del ENSP00000510218.1:n.*53-1249_*53-1212del
ENST00000687445.1:n.923_960del
ENST00000689906.1:c.519-1249_519-1212del ENSP00000508630.1:n.519-1249_519-1212del
ENST00000692816.1:n.926_963del
ENST00000692948.1:c.608_645del ENSP00000508773.1:p.Leu203ArgfsTer?
ENST00000693029.1:n.926_963del
ENST00000594239.6:c.551_588del MANE Select ENSP00000471166.1:p.Leu184ArgfsTer?
ENST00000413620.5:c.515_552del ENSP00000398579.1:p.Leu172ArgfsTer?
ENST00000440286.5:c.551_588del ENSP00000394934.1:p.Leu184ArgfsTer?
ENST00000594239.5:c.551_588del ENSP00000471166.1:p.Leu184ArgfsTer?
ENST00000611071.4:c.551_588del ENSP00000479662.1:p.Leu184ArgfsTer?
ENST00000611176.4:c.519-1249_519-1212del ENSP00000478616.1:n.519-1249_519-1212del
ENST00000612051.1:c.*543_*580del ENSP00000480431.1:n.*543_*580del
ENST00000615186.4:c.149_186del ENSP00000479144.1:p.Leu50ArgfsTer?
ENST00000615874.4:c.548_585del ENSP00000483381.1:p.Leu183ArgfsTer?
ENST00000617207.4:c.548_585del ENSP00000484023.1:p.Leu183ArgfsTer?
ENST00000617838.1:n.200-2371_200-2334del
ENST00000618670.4:c.755_792del ENSP00000483825.1:p.Leu252ArgfsTer?
ENST00000619941.4:c.551_588del ENSP00000478979.1:p.Leu184ArgfsTer?
NM_001099856.3:c.755_792del NP_001093326.2:p.Leu252ArgfsTer?
NM_001099857.2:c.551_588del NP_001093327.1:p.Leu184ArgfsTer?
NM_001145255.2:c.519-1249_519-1212del NP_001138727.1:n.519-1249_519-1212del
NM_003639.4:c.551_588del NP_003630.1:p.Leu184ArgfsTer?
XM_005274760.3:c.752_789del XP_005274817.1:p.Leu251ArgfsTer?
XM_005274761.3:c.755_792del XP_005274818.1:p.Leu252ArgfsTer?
XM_005274764.3:c.548_585del XP_005274821.1:p.Leu183ArgfsTer?
XM_011531203.1:c.723-1249_723-1212del XP_011529505.1:n.723-1249_723-1212del
XM_011531204.1:c.551_588del XP_011529506.1:p.Leu184ArgfsTer?
XM_011531205.1:c.551_588del XP_011529507.1:p.Leu184ArgfsTer?
NM_001099856.4:c.755_792del NP_001093326.2:p.Leu252ArgfsTer?
NM_001321396.1:c.551_588del NP_001308325.1:p.Leu184ArgfsTer?
NM_001321397.1:c.548_585del NP_001308326.1:p.Leu183ArgfsTer?
NM_001099856.6:c.755_792del NP_001093326.2:p.Leu252ArgfsTer?
NM_001099857.4:c.551_588del NP_001093327.1:p.Leu184ArgfsTer?
NM_001145255.4:c.519-1249_519-1212del NP_001138727.1:n.519-1249_519-1212del
NM_001321396.3:c.551_588del NP_001308325.1:p.Leu184ArgfsTer?
NM_001321397.3:c.548_585del NP_001308326.1:p.Leu183ArgfsTer?
NM_001377312.1:c.551_588del NP_001364241.1:p.Leu184ArgfsTer?
NM_001377313.1:c.548_585del NP_001364242.1:p.Leu183ArgfsTer?
NM_001377314.1:c.516-1249_516-1212del NP_001364243.1:n.516-1249_516-1212del
NM_001377315.1:c.400-2371_400-2334del NP_001364244.1:n.400-2371_400-2334del
NR_165197.1:n.541-1249_541-1212del
NM_001099857.5:c.551_588del MANE Select NP_001093327.1:p.Leu184ArgfsTer?