Canonical Allele Identifier: CA117106

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 4854
• ClinVar RCV Id: RCV000005128 ; RCV000005127 ; RCV000408801 ; RCV002512795
• dbSNP Id: rs387906321
• gnomAD v4: 3-138946021-C-CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT
• MyVariant Identifiers: chr3:g.138664864_138664893dup30 (hg19) ; chr3:g.138664863_138664864insGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT (hg19) ; chr3:g.138946022_138946051dup30 (hg38) ; chr3:g.138946021_138946022insGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT (hg38)
• PubMed: PMID:11175783 ; PMID:12400065 ; PMID:12630957 ; PMID:16283882

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946030_138946059dup , CM000665.2:g.138946030_138946059dup	GRCh38
NC_000003.11:g.138664872_138664901dup , CM000665.1:g.138664872_138664901dup	GRCh37
NC_000003.10:g.140147562_140147591dup	NCBI36
NG_012454.1:g.6090_6119dup
NG_029796.1:g.3797_3826dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.672_701dup MANE Select	ENSP00000497217.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000330315.3:c.672_701dup	ENSP00000333188.3:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_023067.3:c.672_701dup	NP_075555.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_023067.4:c.672_701dup MANE Select	NP_075555.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla