Canonical Allele Identifier: CA10654869

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369925
• ClinVar RCV Id: RCV000408895
• dbSNP Id: rs1057516173
• MyVariant Identifiers: chr3:g.138664862_138664891dup30 (hg19) ; chr3:g.138664861_138664862insCCGCGGCTGCAGCCGCAGCTGCTGCAGCCG (hg19) ; chr3:g.138946020_138946049dup30 (hg38) ; chr3:g.138946019_138946020insCCGCGGCTGCAGCCGCAGCTGCTGCAGCCG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946021_138946050dup , CM000665.2:g.138946021_138946050dup	GRCh38
NC_000003.11:g.138664863_138664892dup , CM000665.1:g.138664863_138664892dup	GRCh37
NC_000003.10:g.140147553_140147582dup	NCBI36
NG_012454.1:g.6092_6121dup
NG_029796.1:g.3788_3817dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.674_703dup MANE Select	ENSP00000497217.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000330315.3:c.674_703dup	ENSP00000333188.3:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_023067.3:c.674_703dup	NP_075555.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_023067.4:c.674_703dup MANE Select	NP_075555.1:p.Ala234_Gly235insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla