Canonical Allele Identifier: CA1107062401

Gene: IRF5

Linked Data

• dbSNP Id: rs1796507613
• gnomAD v3: 7-128949412-TAC-T
• gnomAD v4: 7-128949412-TAC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128949413_128949414del , CM000669.2:g.128949413_128949414del	GRCh38
NC_000007.13:g.128589467_128589468del , CM000669.1:g.128589467_128589468del	GRCh37
NC_000007.12:g.128376703_128376704del	NCBI36
NG_012306.1:g.16474_16475del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700148.1:n.2376_2377del
ENST00000700151.1:n.4642_4643del
ENST00000700152.1:n.4182_4183del
ENST00000700153.1:n.3556_3557del
ENST00000700154.1:n.1720_1721del
ENST00000357234.10:c.*595_*596del MANE Select	ENSP00000349770.5:n.*595_*596del
ENST00000489702.6:c.*595_*596del	ENSP00000418037.2:n.*595_*596del
ENST00000249375.8:c.*595_*596del	ENSP00000249375.4:n.*595_*596del
ENST00000402030.6:c.*595_*596del	ENSP00000385352.2:n.*595_*596del
NM_001098627.3:c.*595_*596del	NP_001092097.2:n.*595_*596del
NM_001098629.2:c.*595_*596del	NP_001092099.1:n.*595_*596del
NM_001098630.2:c.*595_*596del	NP_001092100.1:n.*595_*596del
NM_001242452.2:c.*595_*596del	NP_001229381.1:n.*595_*596del
NM_032643.4:c.*595_*596del	NP_116032.1:n.*595_*596del
XM_005250317.2:c.*595_*596del	XP_005250374.1:n.*595_*596del
XM_006715974.2:c.*595_*596del	XP_006716037.1:n.*595_*596del
XM_011516158.1:c.*595_*596del	XP_011514460.1:n.*595_*596del
XM_011516159.1:c.*595_*596del	XP_011514461.1:n.*595_*596del
XM_011516160.1:c.*595_*596del	XP_011514462.1:n.*595_*596del
XM_011516161.1:c.*595_*596del	XP_011514463.1:n.*595_*596del
XM_011516162.1:c.*595_*596del	XP_011514464.1:n.*595_*596del
XM_011516163.1:c.*595_*596del	XP_011514465.1:n.*595_*596del
XM_011516164.1:c.*595_*596del	XP_011514466.1:n.*595_*596del
NM_001347928.1:c.*595_*596del	NP_001334857.1:n.*595_*596del
NM_001364314.1:c.*595_*596del	NP_001351243.1:n.*595_*596del
XM_011516158.3:c.*595_*596del	XP_011514460.1:n.*595_*596del
XM_011516159.3:c.*595_*596del	XP_011514461.1:n.*595_*596del
NM_001098629.3:c.*595_*596del MANE Select	NP_001092099.1:n.*595_*596del
NM_001098630.3:c.*595_*596del	NP_001092100.1:n.*595_*596del
NM_001242452.3:c.*595_*596del	NP_001229381.1:n.*595_*596del
NM_001347928.2:c.*595_*596del	NP_001334857.1:n.*595_*596del
NM_001364314.2:c.*595_*596del	NP_001351243.1:n.*595_*596del
NM_001098627.4:c.*595_*596del	NP_001092097.2:n.*595_*596del
NM_032643.5:c.*595_*596del	NP_116032.1:n.*595_*596del