Canonical Allele Identifier: CA2739278056
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2812867
ClinVar RCV Id: RCV003677729

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946325_138946335del , CM000665.2:g.138946325_138946335del GRCh38
NC_000003.11:g.138665167_138665177del , CM000665.1:g.138665167_138665177del GRCh37
NC_000003.10:g.140147857_140147867del NCBI36
NG_012454.1:g.5809_5819del
NG_029796.1:g.4092_4102del

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.391_401del MANE Select ENSP00000497217.1:p.Asp131ArgfsTer?
ENST00000330315.3:c.391_401del ENSP00000333188.3:p.Asp131ArgfsTer?
NM_023067.3:c.391_401del NP_075555.1:p.Asp131ArgfsTer?
NM_023067.4:c.391_401del MANE Select NP_075555.1:p.Asp131ArgfsTer?