Canonical Allele Identifier: CA10654864
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369930
ClinVar RCV Id: RCV000408862
dbSNP Id: rs797044528
gnomAD v2: 3-138664760-CG-C
gnomAD v3: 3-138945918-CG-C
gnomAD v4: 3-138945918-CG-C
MyVariant Identifiers: chr3:g.138664761del (hg19) chr3:g.138945919del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945924del , CM000665.2:g.138945924del GRCh38
NC_000003.11:g.138664766del , CM000665.1:g.138664766del GRCh37
NC_000003.10:g.140147456del NCBI36
NG_012454.1:g.6222del
NG_029796.1:g.3691del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.804del MANE Select ENSP00000497217.1:p.Gly269AlafsTer2
ENST00000330315.3:c.804del ENSP00000333188.3:p.Gly269AlafsTer2
NM_023067.3:c.804del NP_075555.1:p.Gly269AlafsTer2
NM_023067.4:c.804del MANE Select NP_075555.1:p.Gly269AlafsTer2
Search 100 bp 5'
Search 100 bp 3'