Canonical Allele Identifier: CA1139656524

Gene: IRF6

Linked Data

• ClinVar Variation Id: 972274
• ClinVar RCV Id: RCV002570373
• dbSNP Id: rs2077940243

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801305_209801306delinsC , CM000663.2:g.209801305_209801306delinsC	GRCh38
NC_000001.10:g.209974650_209974651delinsC , CM000663.1:g.209974650_209974651delinsC	GRCh37
NC_000001.9:g.208041273_208041274delinsC	NCBI36
NG_007081.2:g.9829_9830delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.108_109delinsG	ENSP00000512426.1:p.Phe36LeufsTer27
ENST00000696134.1:c.108_109delinsG	ENSP00000512427.1:p.Phe36LeufsTer27
ENST00000367021.8:c.108_109delinsG MANE Select	ENSP00000355988.3:p.Phe36LeufsTer27
ENST00000643798.1:c.108_109delinsG	ENSP00000496669.1:p.Phe36LeufsTer27
ENST00000367021.7:c.108_109delinsG	ENSP00000355988.3:p.Phe36LeufsTer27
ENST00000456314.1:c.108_109delinsG	ENSP00000403855.1:p.Phe36LeufsTer27
ENST00000542854.5:c.-112+4641_-112+4642delinsG	ENSP00000440532.1:n.-112+4641_-112+4642delinsG
NM_001206696.1:c.-112+4641_-112+4642delinsG	NP_001193625.1:n.-112+4641_-112+4642delinsG
NM_006147.3:c.108_109delinsG	NP_006138.1:p.Phe36LeufsTer27
NM_006147.4:c.108_109delinsG MANE Select	NP_006138.1:p.Phe36LeufsTer27
NM_001206696.2:c.-112+4641_-112+4642delinsG	NP_001193625.1:n.-112+4641_-112+4642delinsG