Canonical Allele Identifier: CA2522092021

Gene: IRF6

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209788528_209788536del , CM000663.2:g.209788528_209788536del	GRCh38
NC_000001.10:g.209961873_209961881del , CM000663.1:g.209961873_209961881del	GRCh37
NC_000001.9:g.208028496_208028504del	NCBI36
NG_007081.2:g.22600_22608del

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1289_1297del	ENSP00000512426.1:p.Asp430_Ile432del
ENST00000696134.1:c.*716_*724del	ENSP00000512427.1:n.*716_*724del
ENST00000367021.8:c.1289_1297del MANE Select	ENSP00000355988.3:p.Asp430_Ile432del
ENST00000643798.1:c.*799_*807del	ENSP00000496669.1:n.*799_*807del
ENST00000367021.7:c.1289_1297del	ENSP00000355988.3:p.Asp430_Ile432del
ENST00000542854.5:c.1004_1012del	ENSP00000440532.1:p.Asp335_Ile337del
NM_001206696.1:c.1004_1012del	NP_001193625.1:p.Asp335_Ile337del
NM_006147.3:c.1289_1297del	NP_006138.1:p.Asp430_Ile432del
NM_006147.4:c.1289_1297del MANE Select	NP_006138.1:p.Asp430_Ile432del
NM_001206696.2:c.1004_1012del	NP_001193625.1:p.Asp335_Ile337del