Canonical Allele Identifier: CA2639740

Gene: FOXL2

Linked Data

• dbSNP Id: rs387906321
• ExAC: 3:138664863 CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT / C
• gnomAD v2: 3-138664863-CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT-C
• gnomAD v3: 3-138946021-CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT-C
• gnomAD v4: 3-138946021-CGCGGCTGCAGCCGCAGCTGCTGCAGCCGCT-C
• MyVariant Identifiers: chr3:g.138664864_138664893del (hg19) ; chr3:g.138946022_138946051del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.138946030_138946059del , CM000665.2:g.138946030_138946059del	GRCh38
NC_000003.11:g.138664872_138664901del , CM000665.1:g.138664872_138664901del	GRCh37
NC_000003.10:g.140147562_140147591del	NCBI36
NG_012454.1:g.6090_6119del
NG_029796.1:g.3797_3826del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000648323.1:c.672_701del MANE Select	ENSP00000497217.1:p.Ala225_Ala234del
ENST00000330315.3:c.672_701del	ENSP00000333188.3:p.Ala225_Ala234del
NM_023067.3:c.672_701del	NP_075555.1:p.Ala225_Ala234del
NM_023067.4:c.672_701del MANE Select	NP_075555.1:p.Ala225_Ala234del