Canonical Allele Identifier: CA2513132226

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786289A>T , CM000663.2:g.209786289A>T	GRCh38
NC_000001.10:g.209959634A>T , CM000663.1:g.209959634A>T	GRCh37
NC_000001.9:g.208026257A>T	NCBI36
NG_007081.2:g.24846T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2135T>A	ENSP00000512426.1:n.1400+2135T>A
ENST00000696134.1:c.*2962T>A	ENSP00000512427.1:n.*2962T>A
ENST00000367021.8:c.*2131T>A MANE Select	ENSP00000355988.3:n.*2131T>A
ENST00000367021.7:c.*2131T>A	ENSP00000355988.3:n.*2131T>A
ENST00000542854.5:c.*2131T>A	ENSP00000440532.1:n.*2131T>A
NM_001206696.1:c.*2131T>A	NP_001193625.1:n.*2131T>A
NM_006147.3:c.*2131T>A	NP_006138.1:n.*2131T>A
NM_006147.4:c.*2131T>A MANE Select	NP_006138.1:n.*2131T>A
NM_001206696.2:c.*2131T>A	NP_001193625.1:n.*2131T>A