Canonical Allele Identifier: CA915253700

Gene: IRF4

Linked Data

• dbSNP Id: rs1561712559
• gnomAD v2: 6-396545-AATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCG-A
• gnomAD v3: 6-396545-AATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCG-A
• gnomAD v4: 6-396545-AATGCCAGTGCTTCTTATCTCAGCCTCTCCTGCACTCCTTTACCCCCGTCTCG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.396559_396610del , CM000668.2:g.396559_396610del	GRCh38
NC_000006.11:g.396559_396610del , CM000668.1:g.396559_396610del	GRCh37
NC_000006.10:g.341559_341610del	NCBI36
NG_027728.1:g.9821_9872del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493114.2:c.493-552_493-501del	ENSP00000436094.2:n.493-552_493-501del
ENST00000696871.1:c.493-552_493-501del	ENSP00000512940.1:n.493-552_493-501del
ENST00000696872.1:c.553-549_553-498del	ENSP00000512941.1:n.553-549_553-498del
ENST00000696873.1:c.58-549_58-498del	ENSP00000512942.1:n.58-549_58-498del
ENST00000380956.9:c.493-549_493-498del MANE Select	ENSP00000370343.4:n.493-549_493-498del
ENST00000380956.8:c.493-549_493-498del	ENSP00000370343.4:n.493-549_493-498del
ENST00000493114.1:c.493-549_493-498del	ENSP00000436094.1:n.493-549_493-498del
ENST00000495137.5:n.319-549_319-498del
NM_001195286.1:c.493-552_493-501del	NP_001182215.1:n.493-552_493-501del
NM_002460.3:c.493-549_493-498del	NP_002451.2:n.493-549_493-498del
NR_046000.2:n.619-552_619-501del
XM_006715090.1:c.493-549_493-498del	XP_006715153.1:n.493-549_493-498del
XM_006715090.2:c.493-549_493-498del	XP_006715153.1:n.493-549_493-498del
NM_002460.4:c.493-549_493-498del MANE Select	NP_002451.2:n.493-549_493-498del
NM_001195286.2:c.493-552_493-501del	NP_001182215.1:n.493-552_493-501del
NR_046000.3:n.606-552_606-501del