Canonical Allele Identifier: CA2639741
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2057601
ClinVar RCV Id: RCV002914901
dbSNP Id: rs756317861
ExAC: 3:138664869 TGCAGCCGCAGCTGCTGCAGCCGCTGCG / T
gnomAD v2: 3-138664869-TGCAGCCGCAGCTGCTGCAGCCGCTGCG-T
gnomAD v3: 3-138946027-TGCAGCCGCAGCTGCTGCAGCCGCTGCG-T
gnomAD v4: 3-138946027-TGCAGCCGCAGCTGCTGCAGCCGCTGCG-T
MyVariant Identifiers: chr3:g.138664870_138664896del (hg19) chr3:g.138946028_138946054del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946030_138946056del , CM000665.2:g.138946030_138946056del GRCh38
NC_000003.11:g.138664872_138664898del , CM000665.1:g.138664872_138664898del GRCh37
NC_000003.10:g.140147562_140147588del NCBI36
NG_012454.1:g.6087_6113del
NG_029796.1:g.3797_3823del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.669_695del MANE Select ENSP00000497217.1:p.Ala224_Ala232del
ENST00000330315.3:c.669_695del ENSP00000333188.3:p.Ala224_Ala232del
NM_023067.3:c.669_695del NP_075555.1:p.Ala224_Ala232del
NM_023067.4:c.669_695del MANE Select NP_075555.1:p.Ala224_Ala232del
Search 100 bp 5'
Search 100 bp 3'