Canonical Allele Identifier: CA10654867
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369927
ClinVar RCV Id: RCV000408856
dbSNP Id: rs1057516175

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945975_138945976del , CM000665.2:g.138945975_138945976del GRCh38
NC_000003.11:g.138664817_138664818del , CM000665.1:g.138664817_138664818del GRCh37
NC_000003.10:g.140147507_140147508del NCBI36
NG_012454.1:g.6166_6167del
NG_029796.1:g.3742_3743del

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.748_749del MANE Select ENSP00000497217.1:p.Gly250ProfsTer?
ENST00000330315.3:c.748_749del ENSP00000333188.3:p.Gly250ProfsTer?
NM_023067.3:c.748_749del NP_075555.1:p.Gly250ProfsTer?
NM_023067.4:c.748_749del MANE Select NP_075555.1:p.Gly250ProfsTer?