Canonical Allele Identifier: CA10654859

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369935
• ClinVar RCV Id: RCV000408783
• dbSNP Id: rs1057516182
• MyVariant Identifiers: chr3:g.138664639_138664658dup20 (hg19) ; chr3:g.138664638_138664639insGGGGCAGGCGGCGGTGCGGC (hg19) ; chr3:g.138945797_138945816dup20 (hg38) ; chr3:g.138945796_138945797insGGGGCAGGCGGCGGTGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945799_138945818dup , CM000665.2:g.138945799_138945818dup	GRCh38
NC_000003.11:g.138664641_138664660dup , CM000665.1:g.138664641_138664660dup	GRCh37
NC_000003.10:g.140147331_140147350dup	NCBI36
NG_012454.1:g.6325_6344dup
NG_029796.1:g.3566_3585dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.907_926dup MANE Select	ENSP00000497217.1:p.His312ArgfsTer?
ENST00000330315.3:c.907_926dup	ENSP00000333188.3:p.His312ArgfsTer?
NM_023067.3:c.907_926dup	NP_075555.1:p.His312ArgfsTer?
NM_023067.4:c.907_926dup MANE Select	NP_075555.1:p.His312ArgfsTer?