Canonical Allele Identifier: CA2586968082

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209796389_209796390del , CM000663.2:g.209796389_209796390del	GRCh38
NC_000001.10:g.209969734_209969735del , CM000663.1:g.209969734_209969735del	GRCh37
NC_000001.9:g.208036357_208036358del	NCBI36
NG_007081.2:g.14750_14751del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.342_343del	ENSP00000512426.1:p.Cys114Ter
ENST00000696134.1:c.342_343del	ENSP00000512427.1:p.Cys114Ter
ENST00000367021.8:c.342_343del MANE Select	ENSP00000355988.3:p.Cys114Ter
ENST00000643798.1:c.342_343del	ENSP00000496669.1:p.Cys114Ter
ENST00000367021.7:c.342_343del	ENSP00000355988.3:p.Cys114Ter
ENST00000456314.1:c.342_343del	ENSP00000403855.1:p.Cys114Ter
ENST00000542854.5:c.57_58del	ENSP00000440532.1:p.Cys19Ter
NM_001206696.1:c.57_58del	NP_001193625.1:p.Cys19Ter
NM_006147.3:c.342_343del	NP_006138.1:p.Cys114Ter
NM_006147.4:c.342_343del MANE Select	NP_006138.1:p.Cys114Ter
NM_001206696.2:c.57_58del	NP_001193625.1:p.Cys19Ter