Canonical Allele Identifier: CA10654868
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369926
ClinVar RCV Id: RCV000408791
dbSNP Id: rs1057516174
MyVariant Identifiers: chr3:g.138664860_138664887del (hg19) chr3:g.138946018_138946045del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946021_138946048del , CM000665.2:g.138946021_138946048del GRCh38
NC_000003.11:g.138664863_138664890del , CM000665.1:g.138664863_138664890del GRCh37
NC_000003.10:g.140147553_140147580del NCBI36
NG_012454.1:g.6096_6123del
NG_029796.1:g.3788_3815del

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.678_705del MANE Select ENSP00000497217.1:p.Ala227ProfsTer?
ENST00000330315.3:c.678_705del ENSP00000333188.3:p.Ala227ProfsTer?
NM_023067.3:c.678_705del NP_075555.1:p.Ala227ProfsTer?
NM_023067.4:c.678_705del MANE Select NP_075555.1:p.Ala227ProfsTer?
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