Canonical Allele Identifier: CA2586968028

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788544_209788547delinsATAACATCATCAA , CM000663.2:g.209788544_209788547delinsATAACATCATCAA	GRCh38
NC_000001.10:g.209961889_209961892delinsATAACATCATCAA , CM000663.1:g.209961889_209961892delinsATAACATCATCAA	GRCh37
NC_000001.9:g.208028512_208028515delinsATAACATCATCAA	NCBI36
NG_007081.2:g.22588_22591delinsTTGATGATGTTAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1277_1280delinsTTGATGATGTTAT	ENSP00000512426.1:p.Pro426_Asp427delinsLeuAspAspValIle
ENST00000696134.1:c.*704_*707delinsTTGATGATGTTAT	ENSP00000512427.1:n.*704_*707delinsTTGATGATGTTAT
ENST00000367021.8:c.1277_1280delinsTTGATGATGTTAT MANE Select	ENSP00000355988.3:p.Pro426_Asp427delinsLeuAspAspValIle
ENST00000643798.1:c.*787_*790delinsTTGATGATGTTAT	ENSP00000496669.1:n.*787_*790delinsTTGATGATGTTAT
ENST00000367021.7:c.1277_1280delinsTTGATGATGTTAT	ENSP00000355988.3:p.Pro426_Asp427delinsLeuAspAspValIle
ENST00000542854.5:c.992_995delinsTTGATGATGTTAT	ENSP00000440532.1:p.Pro331_Asp332delinsLeuAspAspValIle
NM_001206696.1:c.992_995delinsTTGATGATGTTAT	NP_001193625.1:p.Pro331_Asp332delinsLeuAspAspValIle
NM_006147.3:c.1277_1280delinsTTGATGATGTTAT	NP_006138.1:p.Pro426_Asp427delinsLeuAspAspValIle
NM_006147.4:c.1277_1280delinsTTGATGATGTTAT MANE Select	NP_006138.1:p.Pro426_Asp427delinsLeuAspAspValIle
NM_001206696.2:c.992_995delinsTTGATGATGTTAT	NP_001193625.1:p.Pro331_Asp332delinsLeuAspAspValIle