Canonical Allele Identifier: CA730852066
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs1164474855
gnomAD v3: 1-209785969-CT-C
gnomAD v4: 1-209785969-CT-C
MyVariant Identifiers: chr1:g.209959315del (hg19) chr1:g.209785970del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209785974del , CM000663.2:g.209785974del GRCh38
NC_000001.10:g.209959319del , CM000663.1:g.209959319del GRCh37
NC_000001.9:g.208025942del NCBI36
NG_007081.2:g.25165del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1401-2261del ENSP00000512426.1:n.1401-2261del
ENST00000696134.1:c.*3281del ENSP00000512427.1:n.*3281del
ENST00000367021.8:c.*2450del MANE Select ENSP00000355988.3:n.*2450del
ENST00000367021.7:c.*2450del ENSP00000355988.3:n.*2450del
ENST00000542854.5:c.*2450del ENSP00000440532.1:n.*2450del
NM_001206696.1:c.*2450del NP_001193625.1:n.*2450del
NM_006147.3:c.*2450del NP_006138.1:n.*2450del
NM_006147.4:c.*2450del MANE Select NP_006138.1:n.*2450del
NM_001206696.2:c.*2450del NP_001193625.1:n.*2450del
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