Canonical Allele Identifier: CA2586964588
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801371_209801372insTATC , CM000663.2:g.209801371_209801372insTATC GRCh38
NC_000001.10:g.209974716_209974717insTATC , CM000663.1:g.209974716_209974717insTATC GRCh37
NC_000001.9:g.208041339_208041340insTATC NCBI36
NG_007081.2:g.9764_9765insATAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.43_44insATAG ENSP00000512426.1:p.Val15AspfsTer7
ENST00000696134.1:c.43_44insATAG ENSP00000512427.1:p.Val15AspfsTer7
ENST00000367021.8:c.43_44insATAG MANE Select ENSP00000355988.3:p.Val15AspfsTer7
ENST00000643798.1:c.43_44insATAG ENSP00000496669.1:p.Val15AspfsTer7
ENST00000367021.7:c.43_44insATAG ENSP00000355988.3:p.Val15AspfsTer7
ENST00000456314.1:c.43_44insATAG ENSP00000403855.1:p.Val15AspfsTer7
ENST00000542854.5:c.-112+4576_-112+4577insATAG ENSP00000440532.1:n.-112+4576_-112+4577insATAG
NM_001206696.1:c.-112+4576_-112+4577insATAG NP_001193625.1:n.-112+4576_-112+4577insATAG
NM_006147.3:c.43_44insATAG NP_006138.1:p.Val15AspfsTer7
NM_006147.4:c.43_44insATAG MANE Select NP_006138.1:p.Val15AspfsTer7
NM_001206696.2:c.-112+4576_-112+4577insATAG NP_001193625.1:n.-112+4576_-112+4577insATAG