Canonical Allele Identifier: CA2675209554

Gene: IRF1

Linked Data

• gnomAD v4: 5-132483648-A-AGCT

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483650_132483652dup , CM000667.2:g.132483650_132483652dup	GRCh38
NC_000005.9:g.131819342_131819344dup , CM000667.1:g.131819342_131819344dup	GRCh37
NC_000005.8:g.131847241_131847243dup	NCBI36
NG_011450.1:g.12123_12125dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*300_*302dup MANE Select	ENSP00000245414.4:n.*300_*302dup
ENST00000638452.2:c.-169+33961_-169+33963dup	ENSP00000492349.2:n.-169+33961_-169+33963dup
ENST00000638504.1:n.206+63710_206+63712dup
ENST00000638568.2:c.-311+33961_-311+33963dup	ENSP00000491158.2:n.-311+33961_-311+33963dup
ENST00000639899.1:n.289+33961_289+33963dup
ENST00000640655.2:c.-637-2542_-637-2540dup	ENSP00000491596.2:n.-637-2542_-637-2540dup
ENST00000679786.1:n.130+2906_130+2908dup
ENST00000679921.1:c.292+2906_292+2908dup	ENSP00000505766.1:n.292+2906_292+2908dup
ENST00000679945.1:n.130+2906_130+2908dup
ENST00000679964.1:n.50+2016_50+2018dup
ENST00000680380.1:n.136+711_136+713dup
ENST00000680594.1:n.136+711_136+713dup
ENST00000681049.1:n.50+2016_50+2018dup
ENST00000681634.1:n.136+711_136+713dup
ENST00000245414.8:c.*300_*302dup	ENSP00000245414.4:n.*300_*302dup
ENST00000405885.6:c.*300_*302dup	ENSP00000384406.1:n.*300_*302dup
ENST00000472045.1:n.4587_4589dup
NM_002198.2:c.*300_*302dup	NP_002189.1:n.*300_*302dup
XM_011543378.1:c.*300_*302dup	XP_011541680.1:n.*300_*302dup
XM_011543379.1:c.*300_*302dup	XP_011541681.1:n.*300_*302dup
XR_427711.2:n.1339_1341dup
NM_001354924.1:c.*300_*302dup	NP_001341853.1:n.*300_*302dup
NM_001354925.1:c.*300_*302dup	NP_001341854.1:n.*300_*302dup
NR_149068.1:n.1339_1341dup
XM_011543379.2:c.*300_*302dup	XP_011541681.1:n.*300_*302dup
NM_002198.3:c.*300_*302dup MANE Select	NP_002189.1:n.*300_*302dup