Canonical Allele Identifier: CA10654871

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369923
• ClinVar RCV Id: RCV000408883 ; RCV002524615
• dbSNP Id: rs764243782
• gnomAD v4: 3-138946030-A-AGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC
• MyVariant Identifiers: chr3:g.138664873_138664902dup30 (hg19) ; chr3:g.138664872_138664873insGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC (hg19) ; chr3:g.138946031_138946060dup30 (hg38) ; chr3:g.138946030_138946031insGCCGCAGCTGCTGCAGCCGCTGCGGCTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946034_138946063dup , CM000665.2:g.138946034_138946063dup	GRCh38
NC_000003.11:g.138664876_138664905dup , CM000665.1:g.138664876_138664905dup	GRCh37
NC_000003.10:g.140147566_140147595dup	NCBI36
NG_012454.1:g.6081_6110dup
NG_029796.1:g.3801_3830dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.663_692dup MANE Select	ENSP00000497217.1:p.Ala231_Ala232insAlaAlaAlaAlaAlaAlaAlaAlaA...
ENST00000330315.3:c.663_692dup	ENSP00000333188.3:p.Ala231_Ala232insAlaAlaAlaAlaAlaAlaAlaAlaA...
NM_023067.3:c.663_692dup	NP_075555.1:p.Ala231_Ala232insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla
NM_023067.4:c.663_692dup MANE Select	NP_075555.1:p.Ala231_Ala232insAlaAlaAlaAlaAlaAlaAlaAlaAlaAla