Canonical Allele Identifier: CA2586964578
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209801250del , CM000663.2:g.209801250del GRCh38
NC_000001.10:g.209974595del , CM000663.1:g.209974595del GRCh37
NC_000001.9:g.208041218del NCBI36
NG_007081.2:g.9886del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.165del ENSP00000512426.1:p.Ile56PhefsTer7
ENST00000696134.1:c.165del ENSP00000512427.1:p.Ile56PhefsTer7
ENST00000367021.8:c.165del MANE Select ENSP00000355988.3:p.Ile56PhefsTer7
ENST00000643798.1:c.165del ENSP00000496669.1:p.Ile56PhefsTer7
ENST00000367021.7:c.165del ENSP00000355988.3:p.Ile56PhefsTer7
ENST00000456314.1:c.165del ENSP00000403855.1:p.Ile56PhefsTer7
ENST00000542854.5:c.-111-4697del ENSP00000440532.1:n.-111-4697del
NM_001206696.1:c.-111-4697del NP_001193625.1:n.-111-4697del
NM_006147.3:c.165del NP_006138.1:p.Ile56PhefsTer7
NM_006147.4:c.165del MANE Select NP_006138.1:p.Ile56PhefsTer7
NM_001206696.2:c.-111-4697del NP_001193625.1:n.-111-4697del