Canonical Allele Identifier: CA5149118

Gene: FOXE1

Linked Data

• ClinVar Variation Id: 522197
• ClinVar RCV Id: RCV000624973 ; RCV001573581 ; RCV001700261 ; RCV002499014
• dbSNP Id: rs71369530
• ExAC: 9:100616700 AGCCGCCGCCGCC / A
• gnomAD v2: 9-100616700-AGCCGCCGCCGCC-A
• gnomAD v3: 9-97854418-AGCCGCCGCCGCC-A
• gnomAD v4: 9-97854418-AGCCGCCGCCGCC-A
• MyVariant Identifiers: chr9:g.100616722_100616733del (hg19) ; chr9:g.100616704_100616715del (hg19) ; chr9:g.100616701_100616712del (hg19) ; chr9:g.97854440_97854451del (hg38) ; chr9:g.97854419_97854430del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000009.12:g.97854440_97854451del , CM000671.2:g.97854440_97854451del	GRCh38
NC_000009.11:g.100616722_100616733del , CM000671.1:g.100616722_100616733del	GRCh37
NC_000009.10:g.99656543_99656554del	NCBI36
NG_011979.1:g.6186_6197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375123.5:c.526_537del MANE Select	ENSP00000364265.3:p.Ala176_Ala179del
ENST00000375123.4:c.526_537del	ENSP00000364265.3:p.Ala176_Ala179del
NM_004473.3:c.526_537del	NP_004464.2:p.Ala176_Ala179del
NM_004473.4:c.526_537del MANE Select	NP_004464.2:p.Ala176_Ala179del