Canonical Allele Identifier: CA578150834

Gene: IRF5

Linked Data

• dbSNP Id: rs1239400709
• gnomAD v2: 7-128589006-CAAG-C
• gnomAD v3: 7-128948952-CAAG-C
• gnomAD v4: 7-128948952-CAAG-C
• MyVariant Identifiers: chr7:g.128589007_128589009del (hg19) ; chr7:g.128948953_128948955del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128948956_128948958del , CM000669.2:g.128948956_128948958del	GRCh38
NC_000007.13:g.128589010_128589012del , CM000669.1:g.128589010_128589012del	GRCh37
NC_000007.12:g.128376246_128376248del	NCBI36
NG_012306.1:g.16017_16019del

Transcript Alleles

HGVS	Amino-acid change
ENST00000700148.1:n.1919_1921del
ENST00000700151.1:n.4185_4187del
ENST00000700152.1:n.3725_3727del
ENST00000700153.1:n.3099_3101del
ENST00000700154.1:n.1263_1265del
ENST00000357234.10:c.*138_*140del MANE Select	ENSP00000349770.5:n.*138_*140del
ENST00000489702.6:c.*138_*140del	ENSP00000418037.2:n.*138_*140del
ENST00000249375.8:c.*138_*140del	ENSP00000249375.4:n.*138_*140del
ENST00000402030.6:c.*138_*140del	ENSP00000385352.2:n.*138_*140del
ENST00000465603.5:c.*1163_*1165del	ENSP00000418534.1:n.*1163_*1165del
ENST00000473745.5:c.*138_*140del	ENSP00000419149.1:n.*138_*140del
ENST00000619830.1:c.*1133_*1135del	ENSP00000483292.1:n.*1133_*1135del
NM_001098627.3:c.*138_*140del	NP_001092097.2:n.*138_*140del
NM_001098629.2:c.*138_*140del	NP_001092099.1:n.*138_*140del
NM_001098630.2:c.*138_*140del	NP_001092100.1:n.*138_*140del
NM_001242452.2:c.*138_*140del	NP_001229381.1:n.*138_*140del
NM_032643.4:c.*138_*140del	NP_116032.1:n.*138_*140del
XM_005250317.2:c.*138_*140del	XP_005250374.1:n.*138_*140del
XM_006715974.2:c.*138_*140del	XP_006716037.1:n.*138_*140del
XM_011516158.1:c.*138_*140del	XP_011514460.1:n.*138_*140del
XM_011516159.1:c.*138_*140del	XP_011514461.1:n.*138_*140del
XM_011516160.1:c.*138_*140del	XP_011514462.1:n.*138_*140del
XM_011516161.1:c.*138_*140del	XP_011514463.1:n.*138_*140del
XM_011516162.1:c.*138_*140del	XP_011514464.1:n.*138_*140del
XM_011516163.1:c.*138_*140del	XP_011514465.1:n.*138_*140del
XM_011516164.1:c.*138_*140del	XP_011514466.1:n.*138_*140del
NM_001347928.1:c.*138_*140del	NP_001334857.1:n.*138_*140del
NM_001364314.1:c.*138_*140del	NP_001351243.1:n.*138_*140del
XM_011516158.3:c.*138_*140del	XP_011514460.1:n.*138_*140del
XM_011516159.3:c.*138_*140del	XP_011514461.1:n.*138_*140del
NM_001098629.3:c.*138_*140del MANE Select	NP_001092099.1:n.*138_*140del
NM_001098630.3:c.*138_*140del	NP_001092100.1:n.*138_*140del
NM_001242452.3:c.*138_*140del	NP_001229381.1:n.*138_*140del
NM_001347928.2:c.*138_*140del	NP_001334857.1:n.*138_*140del
NM_001364314.2:c.*138_*140del	NP_001351243.1:n.*138_*140del
NM_001098627.4:c.*138_*140del	NP_001092097.2:n.*138_*140del
NM_032643.5:c.*138_*140del	NP_116032.1:n.*138_*140del