Canonical Allele Identifier: CA546892520

Gene: FOXL2

Linked Data

• dbSNP Id: rs1404590999
• gnomAD v2: 3-138664872-AGCCGCAGCTGCTGCAGCCGCTGCG-A
• gnomAD v3: 3-138946030-AGCCGCAGCTGCTGCAGCCGCTGCG-A
• gnomAD v4: 3-138946030-AGCCGCAGCTGCTGCAGCCGCTGCG-A
• MyVariant Identifiers: chr3:g.138664873_138664896del (hg19) ; chr3:g.138664875_138664902delinsTGCC (hg19) ; chr3:g.138946031_138946054del (hg38) ; chr3:g.138946033_138946060delinsTGCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946033_138946056del , CM000665.2:g.138946033_138946056del	GRCh38
NC_000003.11:g.138664875_138664898del , CM000665.1:g.138664875_138664898del	GRCh37
NC_000003.10:g.140147565_140147588del	NCBI36
NG_012454.1:g.6087_6110del
NG_029796.1:g.3800_3823del

Transcript Alleles

HGVS	Amino-acid change
ENST00000648323.1:c.669_692del MANE Select	ENSP00000497217.1:p.Ala224_Ala231del
ENST00000330315.3:c.669_692del	ENSP00000333188.3:p.Ala224_Ala231del
NM_023067.3:c.669_692del	NP_075555.1:p.Ala224_Ala231del
NM_023067.4:c.669_692del MANE Select	NP_075555.1:p.Ala224_Ala231del