Canonical Allele Identifier: CA346063
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162045
ClinVar RCV Id: RCV000149462 RCV001815208 RCV003398794 RCV003415986
dbSNP Id: rs672601359
gnomAD v4: 3-138945863-G-GGAGGCGGGGGTGCGGCC
MyVariant Identifiers: chr3:g.138664706_138664722dup17 (hg19) chr3:g.138664705_138664706insGAGGCGGGGGTGCGGCC (hg19) chr3:g.138945864_138945880dup17 (hg38) chr3:g.138945863_138945864insGAGGCGGGGGTGCGGCC (hg38)
PubMed: PMID:20301614
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945865_138945881dup , CM000665.2:g.138945865_138945881dup GRCh38
NC_000003.11:g.138664707_138664723dup , CM000665.1:g.138664707_138664723dup GRCh37
NC_000003.10:g.140147397_140147413dup NCBI36
NG_012454.1:g.6261_6277dup
NG_029796.1:g.3632_3648dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.843_859dup MANE Select ENSP00000497217.1:p.Pro287ArgfsTer?
ENST00000330315.3:c.843_859dup ENSP00000333188.3:p.Pro287ArgfsTer?
NM_023067.3:c.843_859dup NP_075555.1:p.Pro287ArgfsTer?
NM_023067.4:c.843_859dup MANE Select NP_075555.1:p.Pro287ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'