Canonical Allele Identifier: CA10654858

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369936
• ClinVar RCV Id: RCV000408828
• dbSNP Id: rs1057516183
• MyVariant Identifiers: chr3:g.138664604_138664614dupGGCCCGGCGGC (hg19) ; chr3:g.138664603_138664604insGGCCCGGCGGC (hg19) ; chr3:g.138945762_138945772dupGGCCCGGCGGC (hg38) ; chr3:g.138945761_138945762insGGCCCGGCGGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945765_138945775dup , CM000665.2:g.138945765_138945775dup	GRCh38
NC_000003.11:g.138664607_138664617dup , CM000665.1:g.138664607_138664617dup	GRCh37
NC_000003.10:g.140147297_140147307dup	NCBI36
NG_012454.1:g.6369_6379dup
NG_029796.1:g.3532_3542dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.951_961dup MANE Select	ENSP00000497217.1:p.Gln321ArgfsTer?
ENST00000330315.3:c.951_961dup	ENSP00000333188.3:p.Gln321ArgfsTer?
NM_023067.3:c.951_961dup	NP_075555.1:p.Gln321ArgfsTer?
NM_023067.4:c.951_961dup MANE Select	NP_075555.1:p.Gln321ArgfsTer?