Canonical Allele Identifier: CA784559644

Gene: NFKB1

Linked Data

• dbSNP Id: rs1269022268
• gnomAD v3: 4-102583045-TCA-T
• gnomAD v4: 4-102583045-TCA-T
• MyVariant Identifiers: chr4:g.103504203_103504204del (hg19) ; chr4:g.102583046_102583047del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102583048_102583049del , CM000666.2:g.102583048_102583049del	GRCh38
NC_000004.11:g.103504205_103504206del , CM000666.1:g.103504205_103504206del	GRCh37
NC_000004.10:g.103723243_103723244del	NCBI36
NG_050628.1:g.86720_86721del

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.951+91_951+92del	ENSP00000426147.2:n.951+91_951+92del
ENST00000509165.2:c.927+91_927+92del	ENSP00000423877.2:n.927+91_927+92del
ENST00000697794.1:c.*568+91_*568+92del	ENSP00000513443.1:n.*568+91_*568+92del
ENST00000697799.1:n.424+91_424+92del
ENST00000697800.1:n.138+91_138+92del
ENST00000226574.9:c.927+91_927+92del MANE Select	ENSP00000226574.4:n.927+91_927+92del
ENST00000652569.1:c.903+91_903+92del
ENST00000652619.1:c.948+91_948+92del	ENSP00000499031.1:n.948+91_948+92del
ENST00000226574.8:c.927+91_927+92del	ENSP00000226574.4:n.927+91_927+92del
ENST00000394820.8:c.924+91_924+92del	ENSP00000378297.4:n.924+91_924+92del
ENST00000505458.5:c.924+91_924+92del	ENSP00000424790.1:n.924+91_924+92del
ENST00000508584.1:c.306+91_306+92del	ENSP00000424815.1:n.306+91_306+92del
ENST00000600343.5:c.384+91_384+92del	ENSP00000469340.1:n.384+91_384+92del
NM_001165412.1:c.924+91_924+92del	NP_001158884.1:n.924+91_924+92del
NM_003998.3:c.927+91_927+92del	NP_003989.2:n.927+91_927+92del
XM_011532006.1:c.948+91_948+92del	XP_011530308.1:n.948+91_948+92del
XM_011532007.1:c.924+91_924+92del	XP_011530309.1:n.924+91_924+92del
XM_011532008.1:c.768+91_768+92del	XP_011530310.1:n.768+91_768+92del
XM_011532009.1:c.531+91_531+92del	XP_011530311.1:n.531+91_531+92del
NM_001319226.1:c.924+91_924+92del	NP_001306155.1:n.924+91_924+92del
XM_011532006.2:c.948+91_948+92del	XP_011530308.1:n.948+91_948+92del
XM_024454067.1:c.951+91_951+92del	XP_024309835.1:n.951+91_951+92del
XM_024454068.1:c.927+91_927+92del	XP_024309836.1:n.927+91_927+92del
XM_024454069.1:c.792+91_792+92del	XP_024309837.1:n.792+91_792+92del
NM_003998.4:c.927+91_927+92del MANE Select	NP_003989.2:n.927+91_927+92del
NM_001165412.2:c.924+91_924+92del	NP_001158884.1:n.924+91_924+92del
NM_001319226.2:c.924+91_924+92del	NP_001306155.1:n.924+91_924+92del
NM_001382625.1:c.927+91_927+92del	NP_001369554.1:n.927+91_927+92del
NM_001382626.1:c.927+91_927+92del	NP_001369555.1:n.927+91_927+92del
NM_001382627.1:c.924+91_924+92del	NP_001369556.1:n.924+91_924+92del
NM_001382628.1:c.885+91_885+92del	NP_001369557.1:n.885+91_885+92del