Canonical Allele Identifier: CA913189441
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634971
ClinVar RCV Id: RCV000785846
dbSNP Id: rs1559922470

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946336del , CM000665.2:g.138946336del GRCh38
NC_000003.11:g.138665178del , CM000665.1:g.138665178del GRCh37
NC_000003.10:g.140147868del NCBI36
NG_012454.1:g.5805del
NG_029796.1:g.4103del

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.387del MANE Select ENSP00000497217.1:p.Leu130TrpfsTer20
ENST00000330315.3:c.387del ENSP00000333188.3:p.Leu130TrpfsTer20
NM_023067.3:c.387del NP_075555.1:p.Leu130TrpfsTer20
NM_023067.4:c.387del MANE Select NP_075555.1:p.Leu130TrpfsTer20