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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:
CA2667925209
Gene: FOXL2
HGNC
NCBI
Linked Data
gnomAD v4:
3-138945766-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945766_138945767insT , CM000665.2:g.138945766_138945767insT
GRCh38
NC_000003.11:g.138664608_138664609insT , CM000665.1:g.138664608_138664609insT
GRCh37
NC_000003.10:g.140147298_140147299insT
NCBI36
NG_012454.1:g.6374_6375insA
NG_029796.1:g.3533_3534insT
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.956_957insA
MANE Select
ENSP00000497217.1:p.Gln321ProfsTer?
ENST00000330315.3:c.956_957insA
ENSP00000333188.3:p.Gln321ProfsTer?
NM_023067.3:c.956_957insA
NP_075555.1:p.Gln321ProfsTer?
NM_023067.4:c.956_957insA
MANE Select
NP_075555.1:p.Gln321ProfsTer?
Search 100 bp 5'
Search 100 bp 3'