Canonical Allele Identifier: CA212820

Gene: FOXL2

Linked Data

• ClinVar Variation Id: 4866
• ClinVar RCV Id: RCV000005142 ; RCV000192040 ; RCV000599160
• dbSNP Id: rs797044532
• gnomAD v4: 3-138945851-T-TGGGGGTGCGGCGGAGGC
• MyVariant Identifiers: chr3:g.138664694_138664710dup17 (hg19) ; chr3:g.138664693_138664694insGGGGGTGCGGCGGAGGC (hg19) ; chr3:g.138945852_138945868dup17 (hg38) ; chr3:g.138945851_138945852insGGGGGTGCGGCGGAGGC (hg38)
• PubMed: PMID:11175783 ; PMID:11776388 ; PMID:12938087 ; PMID:20301614

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138945863_138945879dup , CM000665.2:g.138945863_138945879dup	GRCh38
NC_000003.11:g.138664705_138664721dup , CM000665.1:g.138664705_138664721dup	GRCh37
NC_000003.10:g.140147395_140147411dup	NCBI36
NG_012454.1:g.6273_6289dup
NG_029796.1:g.3630_3646dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.855_871dup MANE Select	ENSP00000497217.1:p.His291ArgfsTer?
ENST00000330315.3:c.855_871dup	ENSP00000333188.3:p.His291ArgfsTer?
NM_023067.3:c.855_871dup	NP_075555.1:p.His291ArgfsTer?
NM_023067.4:c.855_871dup MANE Select	NP_075555.1:p.His291ArgfsTer?