Canonical Allele Identifier: CA824571544
Gene: IRF4 HGNC NCBI

Linked Data

dbSNP Id: rs1389697227
gnomAD v3: 6-396386-AC-A
gnomAD v4: 6-396386-AC-A

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396387del , CM000668.2:g.396387del GRCh38
NC_000006.11:g.396387del , CM000668.1:g.396387del GRCh37
NC_000006.10:g.341387del NCBI36
NG_027728.1:g.9649del

Transcript Alleles

HGVS Amino-acid change
ENST00000493114.2:c.492+452del ENSP00000436094.2:n.492+452del
ENST00000696871.1:c.492+452del ENSP00000512940.1:n.492+452del
ENST00000696872.1:c.552+452del ENSP00000512941.1:n.552+452del
ENST00000696873.1:c.57+452del ENSP00000512942.1:n.57+452del
ENST00000380956.9:c.492+452del MANE Select ENSP00000370343.4:n.492+452del
ENST00000380956.8:c.492+452del ENSP00000370343.4:n.492+452del
ENST00000493114.1:c.492+452del ENSP00000436094.1:n.492+452del
ENST00000495137.5:n.318+452del
NM_001195286.1:c.492+452del NP_001182215.1:n.492+452del
NM_002460.3:c.492+452del NP_002451.2:n.492+452del
NR_046000.2:n.618+452del
XM_006715090.1:c.492+452del XP_006715153.1:n.492+452del
XM_006715090.2:c.492+452del XP_006715153.1:n.492+452del
NM_002460.4:c.492+452del MANE Select NP_002451.2:n.492+452del
NM_001195286.2:c.492+452del NP_001182215.1:n.492+452del
NR_046000.3:n.605+452del