Canonical Allele Identifier: CA2639747
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1318744
ClinVar RCV Id: RCV001768368 RCV002503252
dbSNP Id: rs779509486
ExAC: 3:138664890 CGCT / C
gnomAD v2: 3-138664890-CGCT-C
gnomAD v3: 3-138946048-CGCT-C
gnomAD v4: 3-138946048-CGCT-C
COSMIC: COSM5020019
MyVariant Identifiers: chr3:g.138664891_138664893del (hg19) chr3:g.138946049_138946051del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946051_138946053del , CM000665.2:g.138946051_138946053del GRCh38
NC_000003.11:g.138664893_138664895del , CM000665.1:g.138664893_138664895del GRCh37
NC_000003.10:g.140147583_140147585del NCBI36
NG_012454.1:g.6090_6092del
NG_029796.1:g.3818_3820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.672_674del MANE Select ENSP00000497217.1:p.Ala225del
ENST00000330315.3:c.672_674del ENSP00000333188.3:p.Ala225del
NM_023067.3:c.672_674del NP_075555.1:p.Ala225del
NM_023067.4:c.672_674del MANE Select NP_075555.1:p.Ala225del
Search 100 bp 5'
Search 100 bp 3'