Canonical Allele Identifier: CA36751543
Gene: IRF6 HGNC NCBI

Linked Data

dbSNP Id: rs558950596
gnomAD v2: 1-209959492-AGAAAG-A
gnomAD v3: 1-209786147-AGAAAG-A
gnomAD v4: 1-209786147-AGAAAG-A
MyVariant Identifiers: chr1:g.209959493_209959497del (hg19) chr1:g.209786148_209786152del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.209786152_209786156del , CM000663.2:g.209786152_209786156del GRCh38
NC_000001.10:g.209959497_209959501del , CM000663.1:g.209959497_209959501del GRCh37
NC_000001.9:g.208026120_208026124del NCBI36
NG_007081.2:g.24983_24987del

Transcript Alleles

HGVS Amino-acid change
ENST00000696133.1:c.1400+2272_1400+2276del ENSP00000512426.1:n.1400+2272_1400+2276del
ENST00000696134.1:c.*3099_*3103del ENSP00000512427.1:n.*3099_*3103del
ENST00000367021.8:c.*2268_*2272del MANE Select ENSP00000355988.3:n.*2268_*2272del
ENST00000367021.7:c.*2268_*2272del ENSP00000355988.3:n.*2268_*2272del
ENST00000542854.5:c.*2268_*2272del ENSP00000440532.1:n.*2268_*2272del
NM_001206696.1:c.*2268_*2272del NP_001193625.1:n.*2268_*2272del
NM_006147.3:c.*2268_*2272del NP_006138.1:n.*2268_*2272del
NM_006147.4:c.*2268_*2272del MANE Select NP_006138.1:n.*2268_*2272del
NM_001206696.2:c.*2268_*2272del NP_001193625.1:n.*2268_*2272del
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