Canonical Allele Identifier: CA2740090307

Gene: IRF6

Linked Data

• ClinVar Variation Id: 2946861
• ClinVar RCV Id: RCV003809099

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209795309del , CM000663.2:g.209795309del	GRCh38
NC_000001.10:g.209968654del , CM000663.1:g.209968654del	GRCh37
NC_000001.9:g.208035277del	NCBI36
NG_007081.2:g.15829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.492del	ENSP00000512426.1:p.Phe165SerfsTer2
ENST00000696134.1:c.492del	ENSP00000512427.1:p.Phe165SerfsTer2
ENST00000367021.8:c.492del MANE Select	ENSP00000355988.3:p.Phe165SerfsTer2
ENST00000643798.1:c.492del	ENSP00000496669.1:p.Phe165SerfsTer2
ENST00000367021.7:c.492del	ENSP00000355988.3:p.Phe165SerfsTer2
ENST00000456314.1:c.492del	ENSP00000403855.1:p.Phe165SerfsTer2
ENST00000542854.5:c.207del	ENSP00000440532.1:p.Phe70SerfsTer2
NM_001206696.1:c.207del	NP_001193625.1:p.Phe70SerfsTer2
NM_006147.3:c.492del	NP_006138.1:p.Phe165SerfsTer2
NM_006147.4:c.492del MANE Select	NP_006138.1:p.Phe165SerfsTer2
NM_001206696.2:c.207del	NP_001193625.1:p.Phe70SerfsTer2