Canonical Allele Identifier: CA803994957

Gene: IRF1

Linked Data

• dbSNP Id: rs1230369422
• MyVariant Identifiers: chr5:g.131819396_131819397insA (hg19) ; chr5:g.132483704_132483705insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483705dup , CM000667.2:g.132483705dup	GRCh38
NC_000005.9:g.131819397dup , CM000667.1:g.131819397dup	GRCh37
NC_000005.8:g.131847296dup	NCBI36
NG_011450.1:g.12069dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*246dup MANE Select	ENSP00000245414.4:n.*246dup
ENST00000638452.2:c.-169+34016dup	ENSP00000492349.2:n.-169+34016dup
ENST00000638504.1:n.206+63765dup
ENST00000638568.2:c.-311+34016dup	ENSP00000491158.2:n.-311+34016dup
ENST00000639899.1:n.289+34016dup
ENST00000640655.2:c.-637-2487dup	ENSP00000491596.2:n.-637-2487dup
ENST00000679786.1:n.130+2852dup
ENST00000679921.1:c.292+2852dup	ENSP00000505766.1:n.292+2852dup
ENST00000679945.1:n.130+2852dup
ENST00000679964.1:n.50+1962dup
ENST00000680380.1:n.136+657dup
ENST00000680594.1:n.136+657dup
ENST00000681049.1:n.50+1962dup
ENST00000681634.1:n.136+657dup
ENST00000245414.8:c.*246dup	ENSP00000245414.4:n.*246dup
ENST00000405885.6:c.*246dup	ENSP00000384406.1:n.*246dup
ENST00000472045.1:n.4533dup
NM_002198.2:c.*246dup	NP_002189.1:n.*246dup
XM_011543378.1:c.*246dup	XP_011541680.1:n.*246dup
XM_011543379.1:c.*246dup	XP_011541681.1:n.*246dup
XR_427711.2:n.1285dup
NM_001354924.1:c.*246dup	NP_001341853.1:n.*246dup
NM_001354925.1:c.*246dup	NP_001341854.1:n.*246dup
NR_149068.1:n.1285dup
XM_011543379.2:c.*246dup	XP_011541681.1:n.*246dup
NM_002198.3:c.*246dup MANE Select	NP_002189.1:n.*246dup