Canonical Allele Identifier: CA16617049

Gene: IRF6

Linked Data

• ClinVar Variation Id: 424267
• ClinVar RCV Id: RCV000482166
• dbSNP Id: rs1553248638
• MyVariant Identifiers: chr1:g.209974730dupA (hg19) ; chr1:g.209974729_209974730insA (hg19) ; chr1:g.209801385dupA (hg38) ; chr1:g.209801384_209801385insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801385dup , CM000663.2:g.209801385dup	GRCh38
NC_000001.10:g.209974730dup , CM000663.1:g.209974730dup	GRCh37
NC_000001.9:g.208041353dup	NCBI36
NG_007081.2:g.9750dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.29dup	ENSP00000512426.1:p.Pro12AlafsTer9
ENST00000696134.1:c.29dup	ENSP00000512427.1:p.Pro12AlafsTer9
ENST00000367021.8:c.29dup MANE Select	ENSP00000355988.3:p.Pro12AlafsTer9
ENST00000643798.1:c.29dup	ENSP00000496669.1:p.Pro12AlafsTer9
ENST00000367021.7:c.29dup	ENSP00000355988.3:p.Pro12AlafsTer9
ENST00000456314.1:c.29dup	ENSP00000403855.1:p.Pro12AlafsTer9
ENST00000542854.5:c.-112+4562dup	ENSP00000440532.1:n.-112+4562dup
NM_001206696.1:c.-112+4562dup	NP_001193625.1:n.-112+4562dup
NM_006147.3:c.29dup	NP_006138.1:p.Pro12AlafsTer9
NM_006147.4:c.29dup MANE Select	NP_006138.1:p.Pro12AlafsTer9
NM_001206696.2:c.-112+4562dup	NP_001193625.1:n.-112+4562dup