Canonical Allele Identifier: CA2574125185

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801326_209801327del , CM000663.2:g.209801326_209801327del	GRCh38
NC_000001.10:g.209974671_209974672del , CM000663.1:g.209974671_209974672del	GRCh37
NC_000001.9:g.208041294_208041295del	NCBI36
NG_007081.2:g.9811_9812del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.90_91del	ENSP00000512426.1:p.His30GlnfsTer4
ENST00000696134.1:c.90_91del	ENSP00000512427.1:p.His30GlnfsTer4
ENST00000367021.8:c.90_91del MANE Select	ENSP00000355988.3:p.His30GlnfsTer4
ENST00000643798.1:c.90_91del	ENSP00000496669.1:p.His30GlnfsTer4
ENST00000367021.7:c.90_91del	ENSP00000355988.3:p.His30GlnfsTer4
ENST00000456314.1:c.90_91del	ENSP00000403855.1:p.His30GlnfsTer4
ENST00000542854.5:c.-112+4623_-112+4624del	ENSP00000440532.1:n.-112+4623_-112+4624del
NM_001206696.1:c.-112+4623_-112+4624del	NP_001193625.1:n.-112+4623_-112+4624del
NM_006147.3:c.90_91del	NP_006138.1:p.His30GlnfsTer4
NM_006147.4:c.90_91del MANE Select	NP_006138.1:p.His30GlnfsTer4
NM_001206696.2:c.-112+4623_-112+4624del	NP_001193625.1:n.-112+4623_-112+4624del