Allele Registry

Canonical Allele Identifier: CA252752

Gene: IRF6 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr1:g.209790667_209790685delinsT

GRCh37 chr1:g.209964012_209964030delinsT

Linked Data - NCBI & NCI

ClinVar Allele:

18451

ClinVar RCV:

RCV000003581

ClinVar Variation:

3412

dbSNP:

587776569

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.209790667_209790685delinsT , CM000663.2:g.209790667_209790685delinsT	GRCh38
NC_000001.10:g.209964012_209964030delinsT , CM000663.1:g.209964012_209964030delinsT	GRCh37
NC_000001.9:g.208030635_208030653delinsT	NCBI36
NG_007081.2:g.20450_20468delinsA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696133.1:c.870_888delinsA	ENSP00000512426.1:p.Phe290_Asp296delinsLeu
ENST00000696134.1:c.297_315delinsA	ENSP00000512427.1:n.297_315delinsA
ENST00000367021.8:c.870_888delinsA MANE Select	ENSP00000355988.3:p.Phe290_Asp296delinsLeu
ENST00000643798.1:c.380_398delinsA	ENSP00000496669.1:n.380_398delinsA
ENST00000367021.7:c.870_888delinsA	ENSP00000355988.3:p.Phe290_Asp296delinsLeu
ENST00000542854.5:c.585_603delinsA	ENSP00000440532.1:p.Phe195_Asp201delinsLeu
NM_001206696.1:c.585_603delinsA	NP_001193625.1:p.Phe195_Asp201delinsLeu
NM_006147.3:c.870_888delinsA	NP_006138.1:p.Phe290_Asp296delinsLeu
NM_006147.4:c.870_888delinsA MANE Select	NP_006138.1:p.Phe290_Asp296delinsLeu
NM_001206696.2:c.585_603delinsA	NP_001193625.1:p.Phe195_Asp201delinsLeu

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