Canonical Allele Identifier: CA2675210033

Gene: IRF1

Linked Data

• gnomAD v4: 5-132484049-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132484050dup , CM000667.2:g.132484050dup	GRCh38
NC_000005.9:g.131819742dup , CM000667.1:g.131819742dup	GRCh37
NC_000005.8:g.131847641dup	NCBI36
NG_011450.1:g.11724dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.879dup MANE Select	ENSP00000245414.4:p.Val294CysfsTer?
ENST00000638452.2:c.-169+34361dup	ENSP00000492349.2:n.-169+34361dup
ENST00000638504.1:n.206+64110dup
ENST00000638568.2:c.-311+34361dup	ENSP00000491158.2:n.-311+34361dup
ENST00000639899.1:n.289+34361dup
ENST00000640655.2:c.-637-2142dup	ENSP00000491596.2:n.-637-2142dup
ENST00000679743.1:c.500dup	ENSP00000505257.1:n.500dup
ENST00000679786.1:n.130+2507dup
ENST00000679860.1:c.167dup
ENST00000679921.1:c.292+2507dup	ENSP00000505766.1:n.292+2507dup
ENST00000679945.1:n.130+2507dup
ENST00000679964.1:n.50+1617dup
ENST00000680139.1:c.693dup	ENSP00000506148.1:p.Val232CysfsTer?
ENST00000680380.1:n.136+312dup
ENST00000680562.1:c.327dup	ENSP00000505853.1:p.Val110CysfsTer?
ENST00000680594.1:n.136+312dup
ENST00000680903.1:c.756dup	ENSP00000505720.1:p.Val253CysfsTer?
ENST00000681049.1:n.50+1617dup
ENST00000681240.1:c.129dup	ENSP00000506034.1:p.Val44CysfsTer?
ENST00000681336.1:c.137-11dup	ENSP00000505242.1:n.137-11dup
ENST00000681462.1:c.716dup
ENST00000681595.1:c.440dup	ENSP00000506023.1:n.440dup
ENST00000681634.1:n.136+312dup
ENST00000681694.1:c.191dup	ENSP00000506552.1:n.191dup
ENST00000681715.1:c.377dup	ENSP00000506545.1:n.377dup
ENST00000245414.8:c.879dup	ENSP00000245414.4:p.Val294CysfsTer?
ENST00000405885.6:c.879dup	ENSP00000384406.1:p.Val294CysfsTer?
ENST00000472045.1:n.4188dup
NM_002198.2:c.879dup	NP_002189.1:p.Val294CysfsTer?
XM_011543378.1:c.756dup	XP_011541680.1:p.Val253CysfsTer?
XM_011543379.1:c.627dup	XP_011541681.1:p.Val210CysfsTer?
XR_427711.2:n.940dup
NM_001354924.1:c.756dup	NP_001341853.1:p.Val253CysfsTer?
NM_001354925.1:c.693dup	NP_001341854.1:p.Val232CysfsTer?
NR_149068.1:n.940dup
XM_011543379.2:c.627dup	XP_011541681.1:p.Val210CysfsTer?
NM_002198.3:c.879dup MANE Select	NP_002189.1:p.Val294CysfsTer?