Canonical Allele Identifier: CA1481407547

Gene: NFKB1

Linked Data

• dbSNP Id: rs1738998021
• gnomAD v3: 4-102501347-CAGAA-C
• gnomAD v4: 4-102501347-CAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501351_102501354del , CM000666.2:g.102501351_102501354del	GRCh38
NC_000004.11:g.103422508_103422511del , CM000666.1:g.103422508_103422511del	GRCh37
NC_000004.10:g.103641540_103641543del	NCBI36
NG_050628.1:g.5023_5026del

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.-491_-488del	ENSP00000426147.2:n.-491_-488del
ENST00000226574.8:c.-445_-442del	ENSP00000226574.4:n.-445_-442del
ENST00000394820.8:c.-445_-442del	ENSP00000378297.4:n.-445_-442del
NM_001165412.1:c.-445_-442del	NP_001158884.1:n.-445_-442del
NM_003998.3:c.-445_-442del	NP_003989.2:n.-445_-442del
XM_011532467.1:c.541_544del	XP_011530769.1:p.Phe181ValfsTer?
NR_136202.1:n.48+1088_48+1091del
XM_024454067.1:c.-491_-488del	XP_024309835.1:n.-491_-488del
XM_024454069.1:c.-491_-488del	XP_024309837.1:n.-491_-488del