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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA436094076
Gene: FOXL2
HGNC
NCBI
Linked Data
gnomAD v4:
3-138945785-CCGTGGTGCGGTGGGGCAGGCGGCGGTGCGGCGGCCG-C
MyVariant Identifiers:
chr3:g.138664628_138664663del (hg19)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945790_138945825del , CM000665.2:g.138945790_138945825del
GRCh38
NC_000003.11:g.138664632_138664667del , CM000665.1:g.138664632_138664667del
GRCh37
NC_000003.10:g.140147322_140147357del
NCBI36
NG_012454.1:g.6320_6355del
NG_029796.1:g.3557_3592del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.902_937del
MANE Select
ENSP00000497217.1:p.Ala301_His312del
ENST00000330315.3:c.902_937del
ENSP00000333188.3:p.Ala301_His312del
NM_023067.3:c.902_937del
NP_075555.1:p.Ala301_His312del
NM_023067.4:c.902_937del
MANE Select
NP_075555.1:p.Ala301_His312del
Search 100 bp 5'
Search 100 bp 3'