Canonical Allele Identifier: CA784590668

Gene: NFKB1

Linked Data

• dbSNP Id: rs1309053112
• gnomAD v3: 4-102523158-T-TCA
• gnomAD v4: 4-102523158-T-TCA
• MyVariant Identifiers: chr4:g.103444315_103444316insCA (hg19) ; chr4:g.102523158_102523159insCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102523163_102523164dup , CM000666.2:g.102523163_102523164dup	GRCh38
NC_000004.11:g.103444320_103444321dup , CM000666.1:g.103444320_103444321dup	GRCh37
NC_000004.10:g.103663350_103663351dup	NCBI36
NG_050628.1:g.26835_26836dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.18-2349_18-2348dup	ENSP00000426147.2:n.18-2349_18-2348dup
ENST00000509165.2:c.-7-2349_-7-2348dup	ENSP00000423877.2:n.-7-2349_-7-2348dup
ENST00000697793.1:n.179-6673_179-6672dup
ENST00000697794.1:c.-7-2349_-7-2348dup	ENSP00000513443.1:n.-7-2349_-7-2348dup
ENST00000697795.1:n.47-2349_47-2348dup
ENST00000697796.1:n.276-2355_276-2354dup
ENST00000697797.1:n.197-2355_197-2354dup
ENST00000226574.9:c.-7-2349_-7-2348dup MANE Select	ENSP00000226574.4:n.-7-2349_-7-2348dup
ENST00000652619.1:c.18-2349_18-2348dup	ENSP00000499031.1:n.18-2349_18-2348dup
ENST00000226574.8:c.-7-2349_-7-2348dup	ENSP00000226574.4:n.-7-2349_-7-2348dup
ENST00000394820.8:c.-7-2349_-7-2348dup	ENSP00000378297.4:n.-7-2349_-7-2348dup
ENST00000505458.5:c.-7-2349_-7-2348dup	ENSP00000424790.1:n.-7-2349_-7-2348dup
ENST00000507079.5:c.18-2349_18-2348dup	ENSP00000426147.1:n.18-2349_18-2348dup
ENST00000509165.1:c.-7-2349_-7-2348dup	ENSP00000423877.1:n.-7-2349_-7-2348dup
ENST00000511926.5:c.18-2349_18-2348dup	ENSP00000420904.1:n.18-2349_18-2348dup
NM_001165412.1:c.-7-2349_-7-2348dup	NP_001158884.1:n.-7-2349_-7-2348dup
NM_003998.3:c.-7-2349_-7-2348dup	NP_003989.2:n.-7-2349_-7-2348dup
XM_011532006.1:c.18-2349_18-2348dup	XP_011530308.1:n.18-2349_18-2348dup
XM_011532007.1:c.-7-2349_-7-2348dup	XP_011530309.1:n.-7-2349_-7-2348dup
NM_001319226.1:c.-7-2349_-7-2348dup	NP_001306155.1:n.-7-2349_-7-2348dup
XM_011532006.2:c.18-2349_18-2348dup	XP_011530308.1:n.18-2349_18-2348dup
XM_024454067.1:c.18-2349_18-2348dup	XP_024309835.1:n.18-2349_18-2348dup
XM_024454068.1:c.-7-2349_-7-2348dup	XP_024309836.1:n.-7-2349_-7-2348dup
XM_024454069.1:c.18-2349_18-2348dup	XP_024309837.1:n.18-2349_18-2348dup
NM_003998.4:c.-7-2349_-7-2348dup MANE Select	NP_003989.2:n.-7-2349_-7-2348dup
NM_001165412.2:c.-7-2349_-7-2348dup	NP_001158884.1:n.-7-2349_-7-2348dup
NM_001319226.2:c.-7-2349_-7-2348dup	NP_001306155.1:n.-7-2349_-7-2348dup
NM_001382625.1:c.-7-2349_-7-2348dup	NP_001369554.1:n.-7-2349_-7-2348dup
NM_001382626.1:c.-7-2349_-7-2348dup	NP_001369555.1:n.-7-2349_-7-2348dup
NM_001382627.1:c.-7-2349_-7-2348dup	NP_001369556.1:n.-7-2349_-7-2348dup
NM_001382628.1:c.1-6673_1-6672dup	NP_001369557.1:n.1-6673_1-6672dup