Canonical Allele Identifier: CA2684840081

Gene: IRF5

Linked Data

• gnomAD v4: 7-128948614-A-AGG

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128948617_128948618dup , CM000669.2:g.128948617_128948618dup	GRCh38
NC_000007.13:g.128588671_128588672dup , CM000669.1:g.128588671_128588672dup	GRCh37
NC_000007.12:g.128375907_128375908dup	NCBI36
NG_012306.1:g.15678_15679dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700148.1:n.1580_1581dup
ENST00000700151.1:n.3846_3847dup
ENST00000700152.1:n.3386_3387dup
ENST00000700153.1:n.2760_2761dup
ENST00000700154.1:n.924_925dup
ENST00000357234.10:c.1344_1345dup MANE Select	ENSP00000349770.5:p.Glu449GlyfsTer?
ENST00000489702.6:c.1344_1345dup	ENSP00000418037.2:p.Glu449GlyfsTer?
ENST00000249375.8:c.1296_1297dup	ENSP00000249375.4:p.Glu433GlyfsTer?
ENST00000357234.9:c.1344_1345dup	ENSP00000349770.5:p.Glu449GlyfsTer?
ENST00000402030.6:c.1296_1297dup	ENSP00000385352.2:p.Glu433GlyfsTer?
ENST00000465603.5:c.*824_*825dup	ENSP00000418534.1:n.*824_*825dup
ENST00000473745.5:c.1296_1297dup	ENSP00000419149.1:p.Glu433GlyfsTer?
ENST00000477535.5:c.1038_1039dup	ENSP00000419950.1:p.Glu347GlyfsTer?
ENST00000619830.1:c.*794_*795dup	ENSP00000483292.1:n.*794_*795dup
NM_001098627.3:c.1296_1297dup	NP_001092097.2:p.Glu433GlyfsTer?
NM_001098629.2:c.1344_1345dup	NP_001092099.1:p.Glu449GlyfsTer?
NM_001098630.2:c.1296_1297dup	NP_001092100.1:p.Glu433GlyfsTer?
NM_001242452.2:c.1038_1039dup	NP_001229381.1:p.Glu347GlyfsTer?
NM_032643.4:c.1296_1297dup	NP_116032.1:p.Glu433GlyfsTer?
XM_005250317.2:c.1344_1345dup	XP_005250374.1:p.Glu449GlyfsTer?
XM_006715974.2:c.1344_1345dup	XP_006716037.1:p.Glu449GlyfsTer?
XM_011516158.1:c.1344_1345dup	XP_011514460.1:p.Glu449GlyfsTer?
XM_011516159.1:c.1344_1345dup	XP_011514461.1:p.Glu449GlyfsTer?
XM_011516160.1:c.1344_1345dup	XP_011514462.1:p.Glu449GlyfsTer?
XM_011516161.1:c.1314_1315dup	XP_011514463.1:p.Glu439GlyfsTer?
XM_011516162.1:c.1266_1267dup	XP_011514464.1:p.Glu423GlyfsTer?
XM_011516163.1:c.1266_1267dup	XP_011514465.1:p.Glu423GlyfsTer?
XM_011516164.1:c.1266_1267dup	XP_011514466.1:p.Glu423GlyfsTer?
NM_001347928.1:c.1344_1345dup	NP_001334857.1:p.Glu449GlyfsTer?
NM_001364314.1:c.1344_1345dup	NP_001351243.1:p.Glu449GlyfsTer?
XM_011516158.3:c.1344_1345dup	XP_011514460.1:p.Glu449GlyfsTer?
XM_011516159.3:c.1344_1345dup	XP_011514461.1:p.Glu449GlyfsTer?
NM_001098629.3:c.1344_1345dup MANE Select	NP_001092099.1:p.Glu449GlyfsTer?
NM_001098630.3:c.1296_1297dup	NP_001092100.1:p.Glu433GlyfsTer?
NM_001242452.3:c.1038_1039dup	NP_001229381.1:p.Glu347GlyfsTer?
NM_001347928.2:c.1344_1345dup	NP_001334857.1:p.Glu449GlyfsTer?
NM_001364314.2:c.1344_1345dup	NP_001351243.1:p.Glu449GlyfsTer?
NM_001098627.4:c.1296_1297dup	NP_001092097.2:p.Glu433GlyfsTer?
NM_032643.5:c.1296_1297dup	NP_116032.1:p.Glu433GlyfsTer?