Canonical Allele Identifier: CA565013926

Gene: IRF4

Linked Data

• dbSNP Id: rs1406363302
• gnomAD v2: 6-396177-CTTCTGGGA-C
• gnomAD v3: 6-396177-CTTCTGGGA-C
• gnomAD v4: 6-396177-CTTCTGGGA-C
• MyVariant Identifiers: chr6:g.396178_396185del (hg19) ; chr6:g.396178_396185del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.396178_396185del , CM000668.2:g.396178_396185del	GRCh38
NC_000006.11:g.396178_396185del , CM000668.1:g.396178_396185del	GRCh37
NC_000006.10:g.341178_341185del	NCBI36
NG_027728.1:g.9440_9447del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000493114.2:c.492+243_492+250del	ENSP00000436094.2:n.492+243_492+250del
ENST00000696871.1:c.492+243_492+250del	ENSP00000512940.1:n.492+243_492+250del
ENST00000696872.1:c.552+243_552+250del	ENSP00000512941.1:n.552+243_552+250del
ENST00000696873.1:c.57+243_57+250del	ENSP00000512942.1:n.57+243_57+250del
ENST00000380956.9:c.492+243_492+250del MANE Select	ENSP00000370343.4:n.492+243_492+250del
ENST00000380956.8:c.492+243_492+250del	ENSP00000370343.4:n.492+243_492+250del
ENST00000493114.1:c.492+243_492+250del	ENSP00000436094.1:n.492+243_492+250del
ENST00000495137.5:n.318+243_318+250del
NM_001195286.1:c.492+243_492+250del	NP_001182215.1:n.492+243_492+250del
NM_002460.3:c.492+243_492+250del	NP_002451.2:n.492+243_492+250del
NR_046000.2:n.618+243_618+250del
XM_006715090.1:c.492+243_492+250del	XP_006715153.1:n.492+243_492+250del
XM_006715090.2:c.492+243_492+250del	XP_006715153.1:n.492+243_492+250del
NM_002460.4:c.492+243_492+250del MANE Select	NP_002451.2:n.492+243_492+250del
NM_001195286.2:c.492+243_492+250del	NP_001182215.1:n.492+243_492+250del
NR_046000.3:n.605+243_605+250del