Canonical Allele Identifier: CA4477758

Gene: IRF5

Linked Data

• dbSNP Id: rs769472846
• ExAC: 7:128588814 GAGCAGGCCTTGGTGTTGGC / G
• gnomAD v2: 7-128588814-GAGCAGGCCTTGGTGTTGGC-G
• gnomAD v4: 7-128948760-GAGCAGGCCTTGGTGTTGGC-G
• MyVariant Identifiers: chr7:g.128588815_128588833del (hg19) ; chr7:g.128948761_128948779del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.128948761_128948779del , CM000669.2:g.128948761_128948779del	GRCh38
NC_000007.13:g.128588815_128588833del , CM000669.1:g.128588815_128588833del	GRCh37
NC_000007.12:g.128376051_128376069del	NCBI36
NG_012306.1:g.15822_15840del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700148.1:n.1724_1742del
ENST00000700151.1:n.3990_4008del
ENST00000700152.1:n.3530_3548del
ENST00000700153.1:n.2904_2922del
ENST00000700154.1:n.1068_1086del
ENST00000357234.10:c.1488_1506del MANE Select	ENSP00000349770.5:p.Ala497ArgfsTer?
ENST00000489702.6:c.1488_1506del	ENSP00000418037.2:p.Ala497ArgfsTer?
ENST00000249375.8:c.1440_1458del	ENSP00000249375.4:p.Ala481ArgfsTer?
ENST00000357234.9:c.1488_1506del	ENSP00000349770.5:p.Ala497ArgfsTer?
ENST00000402030.6:c.1440_1458del	ENSP00000385352.2:p.Ala481ArgfsTer?
ENST00000465603.5:c.*968_*986del	ENSP00000418534.1:n.*968_*986del
ENST00000473745.5:c.1440_1458del	ENSP00000419149.1:p.Ala481ArgfsTer?
ENST00000477535.5:c.1182_1200del	ENSP00000419950.1:p.Ala395ArgfsTer?
ENST00000619830.1:c.*938_*956del	ENSP00000483292.1:n.*938_*956del
NM_001098627.3:c.1440_1458del	NP_001092097.2:p.Ala481ArgfsTer?
NM_001098629.2:c.1488_1506del	NP_001092099.1:p.Ala497ArgfsTer?
NM_001098630.2:c.1440_1458del	NP_001092100.1:p.Ala481ArgfsTer?
NM_001242452.2:c.1182_1200del	NP_001229381.1:p.Ala395ArgfsTer?
NM_032643.4:c.1440_1458del	NP_116032.1:p.Ala481ArgfsTer?
XM_005250317.2:c.1488_1506del	XP_005250374.1:p.Ala497ArgfsTer?
XM_006715974.2:c.1488_1506del	XP_006716037.1:p.Ala497ArgfsTer?
XM_011516158.1:c.1488_1506del	XP_011514460.1:p.Ala497ArgfsTer?
XM_011516159.1:c.1488_1506del	XP_011514461.1:p.Ala497ArgfsTer?
XM_011516160.1:c.1488_1506del	XP_011514462.1:p.Ala497ArgfsTer?
XM_011516161.1:c.1458_1476del	XP_011514463.1:p.Ala487ArgfsTer?
XM_011516162.1:c.1410_1428del	XP_011514464.1:p.Ala471ArgfsTer?
XM_011516163.1:c.1410_1428del	XP_011514465.1:p.Ala471ArgfsTer?
XM_011516164.1:c.1410_1428del	XP_011514466.1:p.Ala471ArgfsTer?
NM_001347928.1:c.1488_1506del	NP_001334857.1:p.Ala497ArgfsTer?
NM_001364314.1:c.1488_1506del	NP_001351243.1:p.Ala497ArgfsTer?
XM_011516158.3:c.1488_1506del	XP_011514460.1:p.Ala497ArgfsTer?
XM_011516159.3:c.1488_1506del	XP_011514461.1:p.Ala497ArgfsTer?
NM_001098629.3:c.1488_1506del MANE Select	NP_001092099.1:p.Ala497ArgfsTer?
NM_001098630.3:c.1440_1458del	NP_001092100.1:p.Ala481ArgfsTer?
NM_001242452.3:c.1182_1200del	NP_001229381.1:p.Ala395ArgfsTer?
NM_001347928.2:c.1488_1506del	NP_001334857.1:p.Ala497ArgfsTer?
NM_001364314.2:c.1488_1506del	NP_001351243.1:p.Ala497ArgfsTer?
NM_001098627.4:c.1440_1458del	NP_001092097.2:p.Ala481ArgfsTer?
NM_032643.5:c.1440_1458del	NP_116032.1:p.Ala481ArgfsTer?