Canonical Allele Identifier: CA824571419
Gene: IRF4 HGNC NCBI

Linked Data

dbSNP Id: rs1287923655
gnomAD v3: 6-396034-AT-A
gnomAD v4: 6-396034-AT-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396037del , CM000668.2:g.396037del GRCh38
NC_000006.11:g.396037del , CM000668.1:g.396037del GRCh37
NC_000006.10:g.341037del NCBI36
NG_027728.1:g.9299del

Transcript Alleles

HGVS Amino-acid Change
ENST00000469834.2:n.682del
ENST00000493114.2:c.492+102del ENSP00000436094.2:n.492+102del
ENST00000696871.1:c.492+102del ENSP00000512940.1:n.492+102del
ENST00000696872.1:c.552+102del ENSP00000512941.1:n.552+102del
ENST00000696873.1:c.57+102del ENSP00000512942.1:n.57+102del
ENST00000380956.9:c.492+102del MANE Select ENSP00000370343.4:n.492+102del
ENST00000380956.8:c.492+102del ENSP00000370343.4:n.492+102del
ENST00000468485.5:n.436del
ENST00000493114.1:c.492+102del ENSP00000436094.1:n.492+102del
ENST00000495137.5:n.318+102del
NM_001195286.1:c.492+102del NP_001182215.1:n.492+102del
NM_002460.3:c.492+102del NP_002451.2:n.492+102del
NR_046000.2:n.618+102del
XM_006715090.1:c.492+102del XP_006715153.1:n.492+102del
XM_006715090.2:c.492+102del XP_006715153.1:n.492+102del
NM_002460.4:c.492+102del MANE Select NP_002451.2:n.492+102del
NM_001195286.2:c.492+102del NP_001182215.1:n.492+102del
NR_046000.3:n.605+102del