Canonical Allele Identifier: CA2586968072

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795358_209795361del , CM000663.2:g.209795358_209795361del	GRCh38
NC_000001.10:g.209968703_209968706del , CM000663.1:g.209968703_209968706del	GRCh37
NC_000001.9:g.208035326_208035329del	NCBI36
NG_007081.2:g.15776_15779del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.439_442del	ENSP00000512426.1:p.Glu147MetfsTer19
ENST00000696134.1:c.439_442del	ENSP00000512427.1:p.Glu147MetfsTer19
ENST00000367021.8:c.439_442del MANE Select	ENSP00000355988.3:p.Glu147MetfsTer19
ENST00000643798.1:c.439_442del	ENSP00000496669.1:p.Glu147MetfsTer19
ENST00000367021.7:c.439_442del	ENSP00000355988.3:p.Glu147MetfsTer19
ENST00000456314.1:c.439_442del	ENSP00000403855.1:p.Glu147MetfsTer19
ENST00000542854.5:c.154_157del	ENSP00000440532.1:p.Glu52MetfsTer19
NM_001206696.1:c.154_157del	NP_001193625.1:p.Glu52MetfsTer19
NM_006147.3:c.439_442del	NP_006138.1:p.Glu147MetfsTer19
NM_006147.4:c.439_442del MANE Select	NP_006138.1:p.Glu147MetfsTer19
NM_001206696.2:c.154_157del	NP_001193625.1:p.Glu52MetfsTer19