Canonical Allele Identifier: CA2484363913

Gene: IRF6

Linked Data

• dbSNP Id: rs2077831112

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209785999_209786001del , CM000663.2:g.209785999_209786001del	GRCh38
NC_000001.10:g.209959344_209959346del , CM000663.1:g.209959344_209959346del	GRCh37
NC_000001.9:g.208025967_208025969del	NCBI36
NG_007081.2:g.25135_25137del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.1401-2291_1401-2289del	ENSP00000512426.1:n.1401-2291_1401-2289del
ENST00000696134.1:c.*3251_*3253del	ENSP00000512427.1:n.*3251_*3253del
ENST00000367021.8:c.*2420_*2422del MANE Select	ENSP00000355988.3:n.*2420_*2422del
ENST00000367021.7:c.*2420_*2422del	ENSP00000355988.3:n.*2420_*2422del
ENST00000542854.5:c.*2420_*2422del	ENSP00000440532.1:n.*2420_*2422del
NM_001206696.1:c.*2420_*2422del	NP_001193625.1:n.*2420_*2422del
NM_006147.3:c.*2420_*2422del	NP_006138.1:n.*2420_*2422del
NM_006147.4:c.*2420_*2422del MANE Select	NP_006138.1:n.*2420_*2422del
NM_001206696.2:c.*2420_*2422del	NP_001193625.1:n.*2420_*2422del