Canonical Allele Identifier: CA2739278055
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2815555
ClinVar RCV Id: RCV003685475

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946022_138946351del , CM000665.2:g.138946022_138946351del GRCh38
NC_000003.11:g.138664864_138665193del , CM000665.1:g.138664864_138665193del GRCh37
NC_000003.10:g.140147554_140147883del NCBI36
NG_012454.1:g.5794_6123del
NG_029796.1:g.3789_4118del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.376_705del MANE Select ENSP00000497217.1:p.Asn126_Gly235del
ENST00000330315.3:c.376_705del ENSP00000333188.3:p.Asn126_Gly235del
NM_023067.3:c.376_705del NP_075555.1:p.Asn126_Gly235del
NM_023067.4:c.376_705del MANE Select NP_075555.1:p.Asn126_Gly235del