Canonical Allele Identifier: CA2697556890
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2715439
ClinVar RCV Id: RCV003553309

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945874_138945884dup , CM000665.2:g.138945874_138945884dup GRCh38
NC_000003.11:g.138664716_138664726dup , CM000665.1:g.138664716_138664726dup GRCh37
NC_000003.10:g.140147406_140147416dup NCBI36
NG_012454.1:g.6258_6268dup
NG_029796.1:g.3641_3651dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.840_850dup MANE Select ENSP00000497217.1:p.Pro284ArgfsTer?
ENST00000330315.3:c.840_850dup ENSP00000333188.3:p.Pro284ArgfsTer?
NM_023067.3:c.840_850dup NP_075555.1:p.Pro284ArgfsTer?
NM_023067.4:c.840_850dup MANE Select NP_075555.1:p.Pro284ArgfsTer?