Canonical Allele Identifier: CA891842999

Gene: IRF6

Linked Data

• ClinVar Variation Id: 568248
• ClinVar RCV Id: RCV002233170
• dbSNP Id: rs1558042839
• MyVariant Identifiers: chr1:g.209974583dup (hg19) ; chr1:g.209801238dup (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801238dup , CM000663.2:g.209801238dup	GRCh38
NC_000001.10:g.209974583dup , CM000663.1:g.209974583dup	GRCh37
NC_000001.9:g.208041206dup	NCBI36
NG_007081.2:g.9897dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.174+2dup	ENSP00000512426.1:n.174+2dup
ENST00000696134.1:c.174+2dup	ENSP00000512427.1:n.174+2dup
ENST00000367021.8:c.174+2dup MANE Select	ENSP00000355988.3:n.174+2dup
ENST00000643798.1:c.174+2dup	ENSP00000496669.1:n.174+2dup
ENST00000367021.7:c.174+2dup	ENSP00000355988.3:n.174+2dup
ENST00000456314.1:c.174+2dup	ENSP00000403855.1:n.174+2dup
ENST00000542854.5:c.-111-4686dup	ENSP00000440532.1:n.-111-4686dup
NM_001206696.1:c.-111-4686dup	NP_001193625.1:n.-111-4686dup
NM_006147.3:c.174+2dup	NP_006138.1:n.174+2dup
NM_006147.4:c.174+2dup MANE Select	NP_006138.1:n.174+2dup
NM_001206696.2:c.-111-4686dup	NP_001193625.1:n.-111-4686dup