Canonical Allele Identifier: CA36751529

Gene: IRF6

Linked Data

• dbSNP Id: rs997329818
• gnomAD v3: 1-209786140-T-TA
• gnomAD v4: 1-209786140-T-TA
• MyVariant Identifiers: chr1:g.209959485_209959486insA (hg19) ; chr1:g.209786140_209786141insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209786147dup , CM000663.2:g.209786147dup	GRCh38
NC_000001.10:g.209959492dup , CM000663.1:g.209959492dup	GRCh37
NC_000001.9:g.208026115dup	NCBI36
NG_007081.2:g.24994dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000696133.1:c.1400+2283dup	ENSP00000512426.1:n.1400+2283dup
ENST00000696134.1:c.*3110dup	ENSP00000512427.1:n.*3110dup
ENST00000367021.8:c.*2279dup MANE Select	ENSP00000355988.3:n.*2279dup
ENST00000367021.7:c.*2279dup	ENSP00000355988.3:n.*2279dup
ENST00000542854.5:c.*2279dup	ENSP00000440532.1:n.*2279dup
NM_001206696.1:c.*2279dup	NP_001193625.1:n.*2279dup
NM_006147.3:c.*2279dup	NP_006138.1:n.*2279dup
NM_006147.4:c.*2279dup MANE Select	NP_006138.1:n.*2279dup
NM_001206696.2:c.*2279dup	NP_001193625.1:n.*2279dup