Canonical Allele Identifier: CA2677040645
Gene: IRF4 HGNC NCBI

Linked Data

gnomAD v4: 6-396188-CAG-C

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.396190_396191del , CM000668.2:g.396190_396191del GRCh38
NC_000006.11:g.396190_396191del , CM000668.1:g.396190_396191del GRCh37
NC_000006.10:g.341190_341191del NCBI36
NG_027728.1:g.9452_9453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000493114.2:c.492+255_492+256del ENSP00000436094.2:n.492+255_492+256del
ENST00000696871.1:c.492+255_492+256del ENSP00000512940.1:n.492+255_492+256del
ENST00000696872.1:c.552+255_552+256del ENSP00000512941.1:n.552+255_552+256del
ENST00000696873.1:c.57+255_57+256del ENSP00000512942.1:n.57+255_57+256del
ENST00000380956.9:c.492+255_492+256del MANE Select ENSP00000370343.4:n.492+255_492+256del
ENST00000380956.8:c.492+255_492+256del ENSP00000370343.4:n.492+255_492+256del
ENST00000493114.1:c.492+255_492+256del ENSP00000436094.1:n.492+255_492+256del
ENST00000495137.5:n.318+255_318+256del
NM_001195286.1:c.492+255_492+256del NP_001182215.1:n.492+255_492+256del
NM_002460.3:c.492+255_492+256del NP_002451.2:n.492+255_492+256del
NR_046000.2:n.618+255_618+256del
XM_006715090.1:c.492+255_492+256del XP_006715153.1:n.492+255_492+256del
XM_006715090.2:c.492+255_492+256del XP_006715153.1:n.492+255_492+256del
NM_002460.4:c.492+255_492+256del MANE Select NP_002451.2:n.492+255_492+256del
NM_001195286.2:c.492+255_492+256del NP_001182215.1:n.492+255_492+256del
NR_046000.3:n.605+255_605+256del