Canonical Allele Identifier: CA784557023

Gene: NFKB1

Linked Data

• dbSNP Id: rs1491138993
• gnomAD v3: 4-102579059-CAG-C
• gnomAD v4: 4-102579059-CAG-C
• MyVariant Identifiers: chr4:g.103500217_103500218del (hg19) ; chr4:g.102579060_102579061del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102579060_102579061del , CM000666.2:g.102579060_102579061del	GRCh38
NC_000004.11:g.103500217_103500218del , CM000666.1:g.103500217_103500218del	GRCh37
NC_000004.10:g.103719255_103719256del	NCBI36
NG_050628.1:g.82732_82733del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.754+21_754+22del	ENSP00000426147.2:n.754+21_754+22del
ENST00000509165.2:c.730+21_730+22del	ENSP00000423877.2:n.730+21_730+22del
ENST00000697794.1:c.*371+21_*371+22del	ENSP00000513443.1:n.*371+21_*371+22del
ENST00000226574.9:c.730+21_730+22del MANE Select	ENSP00000226574.4:n.730+21_730+22del
ENST00000652569.1:c.644+21_644+22del
ENST00000652619.1:c.751+21_751+22del	ENSP00000499031.1:n.751+21_751+22del
ENST00000226574.8:c.730+21_730+22del	ENSP00000226574.4:n.730+21_730+22del
ENST00000394820.8:c.727+21_727+22del	ENSP00000378297.4:n.727+21_727+22del
ENST00000505458.5:c.727+21_727+22del	ENSP00000424790.1:n.727+21_727+22del
ENST00000508584.1:c.109+21_109+22del	ENSP00000424815.1:n.109+21_109+22del
ENST00000510638.1:n.574+21_574+22del
ENST00000600343.5:c.187+21_187+22del	ENSP00000469340.1:n.187+21_187+22del
NM_001165412.1:c.727+21_727+22del	NP_001158884.1:n.727+21_727+22del
NM_003998.3:c.730+21_730+22del	NP_003989.2:n.730+21_730+22del
XM_011532006.1:c.751+21_751+22del	XP_011530308.1:n.751+21_751+22del
XM_011532007.1:c.727+21_727+22del	XP_011530309.1:n.727+21_727+22del
XM_011532008.1:c.572-1475_572-1474del	XP_011530310.1:n.572-1475_572-1474del
XM_011532009.1:c.334+21_334+22del	XP_011530311.1:n.334+21_334+22del
NM_001319226.1:c.727+21_727+22del	NP_001306155.1:n.727+21_727+22del
XM_011532006.2:c.751+21_751+22del	XP_011530308.1:n.751+21_751+22del
XM_024454067.1:c.754+21_754+22del	XP_024309835.1:n.754+21_754+22del
XM_024454068.1:c.730+21_730+22del	XP_024309836.1:n.730+21_730+22del
XM_024454069.1:c.596-1475_596-1474del	XP_024309837.1:n.596-1475_596-1474del
NM_003998.4:c.730+21_730+22del MANE Select	NP_003989.2:n.730+21_730+22del
NM_001165412.2:c.727+21_727+22del	NP_001158884.1:n.727+21_727+22del
NM_001319226.2:c.727+21_727+22del	NP_001306155.1:n.727+21_727+22del
NM_001382625.1:c.730+21_730+22del	NP_001369554.1:n.730+21_730+22del
NM_001382626.1:c.730+21_730+22del	NP_001369555.1:n.730+21_730+22del
NM_001382627.1:c.727+21_727+22del	NP_001369556.1:n.727+21_727+22del
NM_001382628.1:c.688+21_688+22del	NP_001369557.1:n.688+21_688+22del