Canonical Allele Identifier: CA36751485
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs146572469
gnomAD v3: 1-209785974-TA-T
gnomAD v4: 1-209785974-TA-T
MyVariant Identifiers: chr1:g.209959320del (hg19) chr1:g.209785975del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209785976del , CM000663.2:g.209785976del GRCh38
NC_000001.10:g.209959321del , CM000663.1:g.209959321del GRCh37
NC_000001.9:g.208025944del NCBI36
NG_007081.2:g.25160del

Transcript Alleles

HGVS Amino-acid Change
ENST00000696133.1:c.1401-2266del ENSP00000512426.1:n.1401-2266del
ENST00000696134.1:c.*3276del ENSP00000512427.1:n.*3276del
ENST00000367021.8:c.*2445del MANE Select ENSP00000355988.3:n.*2445del
ENST00000367021.7:c.*2445del ENSP00000355988.3:n.*2445del
ENST00000542854.5:c.*2445del ENSP00000440532.1:n.*2445del
NM_001206696.1:c.*2445del NP_001193625.1:n.*2445del
NM_006147.3:c.*2445del NP_006138.1:n.*2445del
NM_006147.4:c.*2445del MANE Select NP_006138.1:n.*2445del
NM_001206696.2:c.*2445del NP_001193625.1:n.*2445del
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