Canonical Allele Identifier: CA2697556889
Gene: FOXL2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2748834
ClinVar RCV Id: RCV003566176

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945843del , CM000665.2:g.138945843del GRCh38
NC_000003.11:g.138664685del , CM000665.1:g.138664685del GRCh37
NC_000003.10:g.140147375del NCBI36
NG_012454.1:g.6299del
NG_029796.1:g.3610del

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.881del MANE Select ENSP00000497217.1:p.Pro294ArgfsTer?
ENST00000330315.3:c.881del ENSP00000333188.3:p.Pro294ArgfsTer?
NM_023067.3:c.881del NP_075555.1:p.Pro294ArgfsTer?
NM_023067.4:c.881del MANE Select NP_075555.1:p.Pro294ArgfsTer?