Allele Registry

Canonical Allele Identifier: CA5149120

Gene: FOXE1 HGNC NCBI

Linked Data - Variant Effect Evidence

MyVariant.info:

GRCh38 chr9:g.97854430_97854431insGCC

GRCh38 chr9:g.97854424_97854425insGCC

GRCh38 chr9:g.97854418_97854419insGCC

GRCh37 chr9:g.100616718_100616719insGCC

GRCh37 chr9:g.100616715_100616716insGCC

GRCh37 chr9:g.100616712_100616713insGCC

GRCh37 chr9:g.100616706_100616707insGCC

GRCh37 chr9:g.100616700_100616701insGCC

Linked Data - Sequence & Population

gnomAD v2:

9:100616700 A / AGCC

gnomAD v3:

9:97854418 A / AGCC

gnomAD v4:

chr9-97854418-A-AGCC

Joint Max Group AF 0.01800512 (AFR)

Genomes Max Group AF 0.02024466 (AMR)

Exomes Max Group AF 0.01657446 (AFR)

Linked Data - NCBI & NCI

ClinVar RCV:

RCV001699949

ClinVar Variation:

1284456

dbSNP:

71369530

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97854449_97854451dup , CM000671.2:g.97854449_97854451dup	GRCh38
NC_000009.11:g.100616731_100616733dup , CM000671.1:g.100616731_100616733dup	GRCh37
NC_000009.10:g.99656552_99656554dup	NCBI36
NG_011979.1:g.6195_6197dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375123.5:c.535_537dup MANE Select	ENSP00000364265.3:p.Ala179_Ile180insAla
ENST00000375123.4:c.535_537dup	ENSP00000364265.3:p.Ala179_Ile180insAla
NM_004473.3:c.535_537dup	NP_004464.2:p.Ala179_Ile180insAla
NM_004473.4:c.535_537dup MANE Select	NP_004464.2:p.Ala179_Ile180insAla

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