Canonical Allele Identifier: CA2586968070
Gene: IRF6 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209795305del , CM000663.2:g.209795305del GRCh38
NC_000001.10:g.209968650del , CM000663.1:g.209968650del GRCh37
NC_000001.9:g.208035273del NCBI36
NG_007081.2:g.15831del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.494del ENSP00000512426.1:p.Phe165SerfsTer2
ENST00000696134.1:c.494del ENSP00000512427.1:p.Phe165SerfsTer2
ENST00000367021.8:c.494del MANE Select ENSP00000355988.3:p.Phe165SerfsTer2
ENST00000643798.1:c.494del ENSP00000496669.1:p.Phe165SerfsTer2
ENST00000367021.7:c.494del ENSP00000355988.3:p.Phe165SerfsTer2
ENST00000456314.1:c.494del ENSP00000403855.1:p.Phe165SerfsTer2
ENST00000542854.5:c.209del ENSP00000440532.1:p.Phe70SerfsTer2
NM_001206696.1:c.209del NP_001193625.1:p.Phe70SerfsTer2
NM_006147.3:c.494del NP_006138.1:p.Phe165SerfsTer2
NM_006147.4:c.494del MANE Select NP_006138.1:p.Phe165SerfsTer2
NM_001206696.2:c.209del NP_001193625.1:p.Phe70SerfsTer2