Canonical Allele Identifier: CA803994981

Gene: IRF1

Linked Data

• dbSNP Id: rs1471120519
• gnomAD v3: 5-132483808-AG-A
• gnomAD v4: 5-132483808-AG-A
• MyVariant Identifiers: chr5:g.131819501del (hg19) ; chr5:g.132483809del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483810del , CM000667.2:g.132483810del	GRCh38
NC_000005.9:g.131819502del , CM000667.1:g.131819502del	GRCh37
NC_000005.8:g.131847401del	NCBI36
NG_011450.1:g.11965del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*142del MANE Select	ENSP00000245414.4:n.*142del
ENST00000638452.2:c.-169+34121del	ENSP00000492349.2:n.-169+34121del
ENST00000638504.1:n.206+63870del
ENST00000638568.2:c.-311+34121del	ENSP00000491158.2:n.-311+34121del
ENST00000639899.1:n.289+34121del
ENST00000640655.2:c.-637-2382del	ENSP00000491596.2:n.-637-2382del
ENST00000679786.1:n.130+2748del
ENST00000679921.1:c.292+2748del	ENSP00000505766.1:n.292+2748del
ENST00000679945.1:n.130+2748del
ENST00000679964.1:n.50+1858del
ENST00000680139.1:c.*142del	ENSP00000506148.1:n.*142del
ENST00000680380.1:n.136+553del
ENST00000680594.1:n.136+553del
ENST00000681049.1:n.50+1858del
ENST00000681634.1:n.136+553del
ENST00000245414.8:c.*142del	ENSP00000245414.4:n.*142del
ENST00000405885.6:c.*142del	ENSP00000384406.1:n.*142del
ENST00000472045.1:n.4429del
NM_002198.2:c.*142del	NP_002189.1:n.*142del
XM_011543378.1:c.*142del	XP_011541680.1:n.*142del
XM_011543379.1:c.*142del	XP_011541681.1:n.*142del
XR_427711.2:n.1181del
NM_001354924.1:c.*142del	NP_001341853.1:n.*142del
NM_001354925.1:c.*142del	NP_001341854.1:n.*142del
NR_149068.1:n.1181del
XM_011543379.2:c.*142del	XP_011541681.1:n.*142del
NM_002198.3:c.*142del MANE Select	NP_002189.1:n.*142del