Canonical Allele Identifier: CA913189444
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 634963
ClinVar RCV Id: RCV000785838
dbSNP Id: rs1559922498
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946386_138946388del , CM000665.2:g.138946386_138946388del GRCh38
NC_000003.11:g.138665228_138665230del , CM000665.1:g.138665228_138665230del GRCh37
NC_000003.10:g.140147918_140147920del NCBI36
NG_012454.1:g.5756_5758del
NG_029796.1:g.4153_4155del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.338_340del MANE Select ENSP00000497217.1:p.Ile113del
ENST00000330315.3:c.338_340del ENSP00000333188.3:p.Ile113del
NM_023067.3:c.338_340del NP_075555.1:p.Ile113del
NM_023067.4:c.338_340del MANE Select NP_075555.1:p.Ile113del
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