Canonical Allele Identifier: CA2484369516

Gene: IRF6

Linked Data

• dbSNP Id: rs2077938906
• gnomAD v4: 1-209801182-C-CAAA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209801182_209801183insAAA , CM000663.2:g.209801182_209801183insAAA	GRCh38
NC_000001.10:g.209974527_209974528insAAA , CM000663.1:g.209974527_209974528insAAA	GRCh37
NC_000001.9:g.208041150_208041151insAAA	NCBI36
NG_007081.2:g.9952_9953insTTT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.174+57_174+58insTTT	ENSP00000512426.1:n.174+57_174+58insTTT
ENST00000696134.1:c.174+57_174+58insTTT	ENSP00000512427.1:n.174+57_174+58insTTT
ENST00000367021.8:c.174+57_174+58insTTT MANE Select	ENSP00000355988.3:n.174+57_174+58insTTT
ENST00000643798.1:c.174+57_174+58insTTT	ENSP00000496669.1:n.174+57_174+58insTTT
ENST00000367021.7:c.174+57_174+58insTTT	ENSP00000355988.3:n.174+57_174+58insTTT
ENST00000456314.1:c.174+57_174+58insTTT	ENSP00000403855.1:n.174+57_174+58insTTT
ENST00000542854.5:c.-111-4631_-111-4630insTTT	ENSP00000440532.1:n.-111-4631_-111-4630insTTT
NM_001206696.1:c.-111-4631_-111-4630insTTT	NP_001193625.1:n.-111-4631_-111-4630insTTT
NM_006147.3:c.174+57_174+58insTTT	NP_006138.1:n.174+57_174+58insTTT
NM_006147.4:c.174+57_174+58insTTT MANE Select	NP_006138.1:n.174+57_174+58insTTT
NM_001206696.2:c.-111-4631_-111-4630insTTT	NP_001193625.1:n.-111-4631_-111-4630insTTT