Canonical Allele Identifier: CA2639744

Gene: FOXL2

Linked Data

• dbSNP Id: rs754432837
• ExAC: 3:138664872 AGCCGCAGCTGCTGCAGCCGCTGCGGCT / A
• gnomAD v3: 3-138946030-AGCCGCAGCTGCTGCAGCCGCTGCGGCT-A
• gnomAD v4: 3-138946030-AGCCGCAGCTGCTGCAGCCGCTGCGGCT-A
• MyVariant Identifiers: chr3:g.138664876_138664902del (hg19) ; chr3:g.138664873_138664899del (hg19) ; chr3:g.138946031_138946057del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946036_138946062del , CM000665.2:g.138946036_138946062del	GRCh38
NC_000003.11:g.138664878_138664904del , CM000665.1:g.138664878_138664904del	GRCh37
NC_000003.10:g.140147568_140147594del	NCBI36
NG_012454.1:g.6084_6110del
NG_029796.1:g.3803_3829del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.666_692del MANE Select	ENSP00000497217.1:p.Ala223_Ala231del
ENST00000330315.3:c.666_692del	ENSP00000333188.3:p.Ala223_Ala231del
NM_023067.3:c.666_692del	NP_075555.1:p.Ala223_Ala231del
NM_023067.4:c.666_692del MANE Select	NP_075555.1:p.Ala223_Ala231del