Canonical Allele Identifier: CA3404396

Gene: IRF1

Linked Data

• dbSNP Id: rs779834769
• ExAC: 5:131819622 AAG / A
• gnomAD v2: 5-131819622-AAG-A
• gnomAD v3: 5-132483930-AAG-A
• gnomAD v4: 5-132483930-AAG-A
• MyVariant Identifiers: chr5:g.131819623_131819624del (hg19) ; chr5:g.132483931_132483932del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483933_132483934del , CM000667.2:g.132483933_132483934del	GRCh38
NC_000005.9:g.131819625_131819626del , CM000667.1:g.131819625_131819626del	GRCh37
NC_000005.8:g.131847524_131847525del	NCBI36
NG_011450.1:g.11842_11843del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*19_*20del MANE Select	ENSP00000245414.4:n.*19_*20del
ENST00000638452.2:c.-169+34244_-169+34245del	ENSP00000492349.2:n.-169+34244_-169+34245del
ENST00000638504.1:n.206+63993_206+63994del
ENST00000638568.2:c.-311+34244_-311+34245del	ENSP00000491158.2:n.-311+34244_-311+34245del
ENST00000639899.1:n.289+34244_289+34245del
ENST00000640655.2:c.-637-2259_-637-2258del	ENSP00000491596.2:n.-637-2259_-637-2258del
ENST00000679786.1:n.130+2625_130+2626del
ENST00000679921.1:c.292+2625_292+2626del	ENSP00000505766.1:n.292+2625_292+2626del
ENST00000679945.1:n.130+2625_130+2626del
ENST00000679964.1:n.50+1735_50+1736del
ENST00000680139.1:c.*19_*20del	ENSP00000506148.1:n.*19_*20del
ENST00000680380.1:n.136+430_136+431del
ENST00000680562.1:c.445_446del	ENSP00000505853.1:n.445_446del
ENST00000680594.1:n.136+430_136+431del
ENST00000680903.1:c.*19_*20del	ENSP00000505720.1:n.*19_*20del
ENST00000681049.1:n.50+1735_50+1736del
ENST00000681240.1:c.247_248del	ENSP00000506034.1:n.247_248del
ENST00000681336.1:c.244_245del	ENSP00000505242.1:n.244_245del
ENST00000681634.1:n.136+430_136+431del
ENST00000681694.1:c.309_310del	ENSP00000506552.1:n.309_310del
ENST00000245414.8:c.*19_*20del	ENSP00000245414.4:n.*19_*20del
ENST00000405885.6:c.*19_*20del	ENSP00000384406.1:n.*19_*20del
ENST00000472045.1:n.4306_4307del
NM_002198.2:c.*19_*20del	NP_002189.1:n.*19_*20del
XM_011543378.1:c.*19_*20del	XP_011541680.1:n.*19_*20del
XM_011543379.1:c.*19_*20del	XP_011541681.1:n.*19_*20del
XR_427711.2:n.1058_1059del
NM_001354924.1:c.*19_*20del	NP_001341853.1:n.*19_*20del
NM_001354925.1:c.*19_*20del	NP_001341854.1:n.*19_*20del
NR_149068.1:n.1058_1059del
XM_011543379.2:c.*19_*20del	XP_011541681.1:n.*19_*20del
NM_002198.3:c.*19_*20del MANE Select	NP_002189.1:n.*19_*20del