Canonical Allele Identifier: CA10654858
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 369936
ClinVar RCV Id: RCV000408828
dbSNP Id: rs1057516183
MyVariant Identifiers: chr3:g.138664604_138664614dupGGCCCGGCGGC (hg19) chr3:g.138664603_138664604insGGCCCGGCGGC (hg19) chr3:g.138945762_138945772dupGGCCCGGCGGC (hg38) chr3:g.138945761_138945762insGGCCCGGCGGC (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945765_138945775dup , CM000665.2:g.138945765_138945775dup GRCh38
NC_000003.11:g.138664607_138664617dup , CM000665.1:g.138664607_138664617dup GRCh37
NC_000003.10:g.140147297_140147307dup NCBI36
NG_012454.1:g.6369_6379dup
NG_029796.1:g.3532_3542dup

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.951_961dup MANE Select ENSP00000497217.1:p.Gln321ArgfsTer?
ENST00000330315.3:c.951_961dup ENSP00000333188.3:p.Gln321ArgfsTer?
NM_023067.3:c.951_961dup NP_075555.1:p.Gln321ArgfsTer?
NM_023067.4:c.951_961dup MANE Select NP_075555.1:p.Gln321ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'