Canonical Allele Identifier: CA2639700
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs762749047
ExAC: 3:138664553 TGGGCGCGGGCGCCGG / T
gnomAD v2: 3-138664553-TGGGCGCGGGCGCCGG-T
gnomAD v3: 3-138945711-TGGGCGCGGGCGCCGG-T
gnomAD v4: 3-138945711-TGGGCGCGGGCGCCGG-T
MyVariant Identifiers: chr3:g.138664554_138664568del (hg19) chr3:g.138945712_138945726del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945720_138945734del , CM000665.2:g.138945720_138945734del GRCh38
NC_000003.11:g.138664562_138664576del , CM000665.1:g.138664562_138664576del GRCh37
NC_000003.10:g.140147252_140147266del NCBI36
NG_012454.1:g.6415_6429del
NG_029796.1:g.3487_3501del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.997_1011del MANE Select ENSP00000497217.1:p.Pro333_Pro337del
ENST00000330315.3:c.997_1011del ENSP00000333188.3:p.Pro333_Pro337del
NM_023067.3:c.997_1011del NP_075555.1:p.Pro333_Pro337del
NM_023067.4:c.997_1011del MANE Select NP_075555.1:p.Pro333_Pro337del
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