Canonical Allele Identifier: CA1054107772
Gene: FOXL2 HGNC NCBI

Linked Data

gnomAD v3: 3-138945775-CGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGT-C
gnomAD v4: 3-138945775-CGCGGCGGCCCCGTGGTGCGGTGGGGCAGGCGGCGGT-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.138945785_138945820del , CM000665.2:g.138945785_138945820del GRCh38
NC_000003.11:g.138664627_138664662del , CM000665.1:g.138664627_138664662del GRCh37
NC_000003.10:g.140147317_140147352del NCBI36
NG_012454.1:g.6330_6365del
NG_029796.1:g.3552_3587del

Transcript Alleles

HGVS Amino-acid change
ENST00000648323.1:c.912_947del MANE Select ENSP00000497217.1:p.Pro305_Ala316del
ENST00000330315.3:c.912_947del ENSP00000333188.3:p.Pro305_Ala316del
NM_023067.3:c.912_947del NP_075555.1:p.Pro305_Ala316del
NM_023067.4:c.912_947del MANE Select NP_075555.1:p.Pro305_Ala316del
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