Canonical Allele Identifier: CA273044
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 162043
ClinVar RCV Id: RCV000149460
dbSNP Id: rs672601357
MyVariant Identifiers: chr3:g.138665392_138665423delinsAGCGC (hg19) chr3:g.138946550_138946581delinsAGCGC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946550_138946581delinsAGCGC , CM000665.2:g.138946550_138946581delinsAGCGC GRCh38
NC_000003.11:g.138665392_138665423delinsAGCGC , CM000665.1:g.138665392_138665423delinsAGCGC GRCh37
NC_000003.10:g.140148082_140148113delinsAGCGC NCBI36
NG_012454.1:g.5560_5591delinsGCGCT
NG_029796.1:g.4317_4348delinsAGCGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.142_173delinsGCGCT MANE Select ENSP00000497217.1:p.Lys48_Ser58delinsAlaLeu
ENST00000330315.3:c.142_173delinsGCGCT ENSP00000333188.3:p.Lys48_Ser58delinsAlaLeu
NM_023067.3:c.142_173delinsGCGCT NP_075555.1:p.Lys48_Ser58delinsAlaLeu
NM_023067.4:c.142_173delinsGCGCT MANE Select NP_075555.1:p.Lys48_Ser58delinsAlaLeu
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