Canonical Allele Identifier: CA103120482

Gene: NFKB1

Linked Data

• dbSNP Id: rs950888209
• gnomAD v2: 4-103422508-AAGAG-A
• gnomAD v3: 4-102501351-AAGAG-A
• gnomAD v4: 4-102501351-AAGAG-A
• MyVariant Identifiers: chr4:g.103422511_103422514del (hg19) ; chr4:g.103422509_103422512del (hg19) ; chr4:g.102501354_102501357del (hg38) ; chr4:g.102501352_102501355del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102501357_102501360del , CM000666.2:g.102501357_102501360del	GRCh38
NC_000004.11:g.103422514_103422517del , CM000666.1:g.103422514_103422517del	GRCh37
NC_000004.10:g.103641546_103641549del	NCBI36
NG_050628.1:g.5029_5032del

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.-485_-482del	ENSP00000426147.2:n.-485_-482del
ENST00000226574.8:c.-439_-436del	ENSP00000226574.4:n.-439_-436del
ENST00000394820.8:c.-439_-436del	ENSP00000378297.4:n.-439_-436del
NM_001165412.1:c.-439_-436del	NP_001158884.1:n.-439_-436del
NM_003998.3:c.-439_-436del	NP_003989.2:n.-439_-436del
XM_011532467.1:c.537_540del	XP_011530769.1:p.Phe181ValfsTer?
NR_136202.1:n.48+1084_48+1087del
XM_024454067.1:c.-485_-482del	XP_024309835.1:n.-485_-482del
XM_024454069.1:c.-485_-482del	XP_024309837.1:n.-485_-482del