Canonical Allele Identifier: CA357869
Gene: NFKB1 HGNC NCBI

Linked Data

ClinVar Variation Id: 210058
ClinVar RCV Id: RCV000195130
dbSNP Id: rs869320754

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102576933dup , CM000666.2:g.102576933dup GRCh38
NC_000004.11:g.103498090dup , CM000666.1:g.103498090dup GRCh37
NC_000004.10:g.103717128dup NCBI36
NG_050628.1:g.80605dup

Transcript Alleles

HGVS Amino-acid change
ENST00000507079.6:c.489dup ENSP00000426147.2:p.Ala164SerfsTer12
ENST00000509165.2:c.465dup ENSP00000423877.2:p.Ala156SerfsTer12
ENST00000697793.1:n.563dup
ENST00000697794.1:c.*106dup ENSP00000513443.1:n.*106dup
ENST00000226574.9:c.465dup MANE Select ENSP00000226574.4:p.Ala156SerfsTer12
ENST00000652569.1:c.379dup
ENST00000652619.1:c.486dup ENSP00000499031.1:p.Ala163SerfsTer12
ENST00000226574.8:c.465dup ENSP00000226574.4:p.Ala156SerfsTer12
ENST00000394820.8:c.462dup ENSP00000378297.4:p.Ala155SerfsTer12
ENST00000505458.5:c.462dup ENSP00000424790.1:p.Ala155SerfsTer12
ENST00000507079.5:c.489dup ENSP00000426147.1:p.Ala164SerfsTer12
ENST00000510638.1:n.309dup
ENST00000513803.5:n.348dup
NM_001165412.1:c.462dup NP_001158884.1:p.Ala155SerfsTer12
NM_003998.3:c.465dup NP_003989.2:p.Ala156SerfsTer12
XM_011532006.1:c.486dup XP_011530308.1:p.Ala163SerfsTer12
XM_011532007.1:c.462dup XP_011530309.1:p.Ala155SerfsTer12
XM_011532008.1:c.465dup XP_011530310.1:p.Ala156SerfsTer12
XM_011532009.1:c.69dup XP_011530311.1:p.Ala24SerfsTer12
XR_244680.3:n.1391+527dup
XR_939028.1:n.1391+527dup
XR_939029.1:n.1391+527dup
NM_001319226.1:c.462dup NP_001306155.1:p.Ala155SerfsTer12
XM_011532006.2:c.486dup XP_011530308.1:p.Ala163SerfsTer12
XM_024454067.1:c.489dup XP_024309835.1:p.Ala164SerfsTer12
XM_024454068.1:c.465dup XP_024309836.1:p.Ala156SerfsTer12
XM_024454069.1:c.489dup XP_024309837.1:p.Ala164SerfsTer12
NM_003998.4:c.465dup MANE Select NP_003989.2:p.Ala156SerfsTer12
NM_001165412.2:c.462dup NP_001158884.1:p.Ala155SerfsTer12
NM_001319226.2:c.462dup NP_001306155.1:p.Ala155SerfsTer12
NM_001382625.1:c.465dup NP_001369554.1:p.Ala156SerfsTer12
NM_001382626.1:c.465dup NP_001369555.1:p.Ala156SerfsTer12
NM_001382627.1:c.462dup NP_001369556.1:p.Ala155SerfsTer12
NM_001382628.1:c.423dup NP_001369557.1:p.Ala142SerfsTer12