Canonical Allele Identifier: CA916393843

Gene: IRF6

Linked Data

• dbSNP Id: rs997329818
• gnomAD v4: 1-209786140-TA-T

Genomic Alleles

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

Transcript Alleles

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