Canonical Allele Identifier: CA803994919

Gene: IRF1

Linked Data

• dbSNP Id: rs1318971519
• gnomAD v3: 5-132483571-A-ATTGGTG
• gnomAD v4: 5-132483571-A-ATTGGTG
• MyVariant Identifiers: chr5:g.131819263_131819264insTTGGTG (hg19) ; chr5:g.132483571_132483572insTTGGTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132483574_132483579dup , CM000667.2:g.132483574_132483579dup	GRCh38
NC_000005.9:g.131819266_131819271dup , CM000667.1:g.131819266_131819271dup	GRCh37
NC_000005.8:g.131847165_131847170dup	NCBI36
NG_011450.1:g.12197_12202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000245414.9:c.*374_*379dup MANE Select	ENSP00000245414.4:n.*374_*379dup
ENST00000638452.2:c.-169+33885_-169+33890dup	ENSP00000492349.2:n.-169+33885_-169+33890dup
ENST00000638504.1:n.206+63634_206+63639dup
ENST00000638568.2:c.-311+33885_-311+33890dup	ENSP00000491158.2:n.-311+33885_-311+33890dup
ENST00000639899.1:n.289+33885_289+33890dup
ENST00000640655.2:c.-637-2618_-637-2613dup	ENSP00000491596.2:n.-637-2618_-637-2613dup
ENST00000679786.1:n.130+2980_130+2985dup
ENST00000679921.1:c.292+2980_292+2985dup	ENSP00000505766.1:n.292+2980_292+2985dup
ENST00000679945.1:n.130+2980_130+2985dup
ENST00000679964.1:n.50+2090_50+2095dup
ENST00000680380.1:n.136+785_136+790dup
ENST00000680594.1:n.136+785_136+790dup
ENST00000681049.1:n.50+2090_50+2095dup
ENST00000681634.1:n.136+785_136+790dup
ENST00000245414.8:c.*374_*379dup	ENSP00000245414.4:n.*374_*379dup
ENST00000405885.6:c.*374_*379dup	ENSP00000384406.1:n.*374_*379dup
ENST00000472045.1:n.4661_4666dup
NM_002198.2:c.*374_*379dup	NP_002189.1:n.*374_*379dup
XM_011543378.1:c.*374_*379dup	XP_011541680.1:n.*374_*379dup
XM_011543379.1:c.*374_*379dup	XP_011541681.1:n.*374_*379dup
XR_427711.2:n.1413_1418dup
NM_001354924.1:c.*374_*379dup	NP_001341853.1:n.*374_*379dup
NM_001354925.1:c.*374_*379dup	NP_001341854.1:n.*374_*379dup
NR_149068.1:n.1413_1418dup
XM_011543379.2:c.*374_*379dup	XP_011541681.1:n.*374_*379dup
NM_002198.3:c.*374_*379dup MANE Select	NP_002189.1:n.*374_*379dup