Canonical Allele Identifier: CA16603308
Gene: IRF6 HGNC NCBI

Linked Data

ClinVar Variation Id: 377224
ClinVar RCV Id: RCV000426709
dbSNP Id: rs1057520168
MyVariant Identifiers: chr1:g.209961939_209961948del (hg19) chr1:g.209788594_209788603del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209788598_209788607del , CM000663.2:g.209788598_209788607del GRCh38
NC_000001.10:g.209961943_209961952del , CM000663.1:g.209961943_209961952del GRCh37
NC_000001.9:g.208028566_208028575del NCBI36
NG_007081.2:g.22532_22541del

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1221_1230del ENSP00000512426.1:p.Gly408HisfsTer26
ENST00000696134.1:c.*648_*657del ENSP00000512427.1:n.*648_*657del
ENST00000367021.8:c.1221_1230del MANE Select ENSP00000355988.3:p.Gly408HisfsTer26
ENST00000643798.1:c.*731_*740del ENSP00000496669.1:n.*731_*740del
ENST00000367021.7:c.1221_1230del ENSP00000355988.3:p.Gly408HisfsTer26
ENST00000542854.5:c.936_945del ENSP00000440532.1:p.Gly313HisfsTer26
NM_001206696.1:c.936_945del NP_001193625.1:p.Gly313HisfsTer26
NM_006147.3:c.1221_1230del NP_006138.1:p.Gly408HisfsTer26
NM_006147.4:c.1221_1230del MANE Select NP_006138.1:p.Gly408HisfsTer26
NM_001206696.2:c.936_945del NP_001193625.1:p.Gly313HisfsTer26
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