Canonical Allele Identifier: CA10654882

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 369912
• ClinVar RCV Id: RCV000408857 ; RCV002523842 ; RCV003362773
• dbSNP Id: rs1057516161
• gnomAD v2: 3-138664988-T-TG
• gnomAD v4: 3-138946146-T-TG
• MyVariant Identifiers: chr3:g.138664989dupG (hg19) ; chr3:g.138664989_138664990insG (hg19) ; chr3:g.138664988_138664989insG (hg19) ; chr3:g.138946147dupG (hg38) ; chr3:g.138946147_138946148insG (hg38) ; chr3:g.138946146_138946147insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946152dup , CM000665.2:g.138946152dup	GRCh38
NC_000003.11:g.138664994dup , CM000665.1:g.138664994dup	GRCh37
NC_000003.10:g.140147684dup	NCBI36
NG_012454.1:g.5994dup
NG_029796.1:g.3919dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.576dup MANE Select	ENSP00000497217.1:p.Lys193GlnfsTer?
ENST00000330315.3:c.576dup	ENSP00000333188.3:p.Lys193GlnfsTer?
NM_023067.3:c.576dup	NP_075555.1:p.Lys193GlnfsTer?
NM_023067.4:c.576dup MANE Select	NP_075555.1:p.Lys193GlnfsTer?