Canonical Allele Identifier: CA2639746
Gene: FOXL2 HGNC NCBI

Linked Data

dbSNP Id: rs757864848
ExAC: 3:138664881 TGCTGCAGCC / T
gnomAD v2: 3-138664881-TGCTGCAGCC-T
gnomAD v4: 3-138946039-TGCTGCAGCC-T
MyVariant Identifiers: chr3:g.138664882_138664890del (hg19) chr3:g.138946040_138946048del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138946045_138946053del , CM000665.2:g.138946045_138946053del GRCh38
NC_000003.11:g.138664887_138664895del , CM000665.1:g.138664887_138664895del GRCh37
NC_000003.10:g.140147577_140147585del NCBI36
NG_012454.1:g.6093_6101del
NG_029796.1:g.3812_3820del

Transcript Alleles

HGVS Amino-acid Change
ENST00000648323.1:c.675_683del MANE Select ENSP00000497217.1:p.Ala226_Ala228del
ENST00000330315.3:c.675_683del ENSP00000333188.3:p.Ala226_Ala228del
NM_023067.3:c.675_683del NP_075555.1:p.Ala226_Ala228del
NM_023067.4:c.675_683del MANE Select NP_075555.1:p.Ala226_Ala228del
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