Canonical Allele Identifier: CA833144248

Gene: IRF5

Linked Data

• dbSNP Id: rs1360098239
• gnomAD v3: 7-128949275-TTAGGTA-T
• gnomAD v4: 7-128949275-TTAGGTA-T
• MyVariant Identifiers: chr7:g.128589330_128589335del (hg19) ; chr7:g.128949276_128949281del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128949277_128949282del , CM000669.2:g.128949277_128949282del	GRCh38
NC_000007.13:g.128589331_128589336del , CM000669.1:g.128589331_128589336del	GRCh37
NC_000007.12:g.128376567_128376572del	NCBI36
NG_012306.1:g.16338_16343del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700148.1:n.2240_2245del
ENST00000700151.1:n.4506_4511del
ENST00000700152.1:n.4046_4051del
ENST00000700153.1:n.3420_3425del
ENST00000700154.1:n.1584_1589del
ENST00000357234.10:c.*459_*464del MANE Select	ENSP00000349770.5:n.*459_*464del
ENST00000489702.6:c.*459_*464del	ENSP00000418037.2:n.*459_*464del
ENST00000249375.8:c.*459_*464del	ENSP00000249375.4:n.*459_*464del
ENST00000402030.6:c.*459_*464del	ENSP00000385352.2:n.*459_*464del
ENST00000465603.5:c.*1484_*1489del	ENSP00000418534.1:n.*1484_*1489del
ENST00000473745.5:c.*459_*464del	ENSP00000419149.1:n.*459_*464del
NM_001098627.3:c.*459_*464del	NP_001092097.2:n.*459_*464del
NM_001098629.2:c.*459_*464del	NP_001092099.1:n.*459_*464del
NM_001098630.2:c.*459_*464del	NP_001092100.1:n.*459_*464del
NM_001242452.2:c.*459_*464del	NP_001229381.1:n.*459_*464del
NM_032643.4:c.*459_*464del	NP_116032.1:n.*459_*464del
XM_005250317.2:c.*459_*464del	XP_005250374.1:n.*459_*464del
XM_006715974.2:c.*459_*464del	XP_006716037.1:n.*459_*464del
XM_011516158.1:c.*459_*464del	XP_011514460.1:n.*459_*464del
XM_011516159.1:c.*459_*464del	XP_011514461.1:n.*459_*464del
XM_011516160.1:c.*459_*464del	XP_011514462.1:n.*459_*464del
XM_011516161.1:c.*459_*464del	XP_011514463.1:n.*459_*464del
XM_011516162.1:c.*459_*464del	XP_011514464.1:n.*459_*464del
XM_011516163.1:c.*459_*464del	XP_011514465.1:n.*459_*464del
XM_011516164.1:c.*459_*464del	XP_011514466.1:n.*459_*464del
NM_001347928.1:c.*459_*464del	NP_001334857.1:n.*459_*464del
NM_001364314.1:c.*459_*464del	NP_001351243.1:n.*459_*464del
XM_011516158.3:c.*459_*464del	XP_011514460.1:n.*459_*464del
XM_011516159.3:c.*459_*464del	XP_011514461.1:n.*459_*464del
NM_001098629.3:c.*459_*464del MANE Select	NP_001092099.1:n.*459_*464del
NM_001098630.3:c.*459_*464del	NP_001092100.1:n.*459_*464del
NM_001242452.3:c.*459_*464del	NP_001229381.1:n.*459_*464del
NM_001347928.2:c.*459_*464del	NP_001334857.1:n.*459_*464del
NM_001364314.2:c.*459_*464del	NP_001351243.1:n.*459_*464del
NM_001098627.4:c.*459_*464del	NP_001092097.2:n.*459_*464del
NM_032643.5:c.*459_*464del	NP_116032.1:n.*459_*464del