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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:
CA2697556890
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2715439
ClinVar RCV Id:
RCV003553309
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945874_138945884dup , CM000665.2:g.138945874_138945884dup
GRCh38
NC_000003.11:g.138664716_138664726dup , CM000665.1:g.138664716_138664726dup
GRCh37
NC_000003.10:g.140147406_140147416dup
NCBI36
NG_012454.1:g.6258_6268dup
NG_029796.1:g.3641_3651dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.840_850dup
MANE Select
ENSP00000497217.1:p.Pro284ArgfsTer?
ENST00000330315.3:c.840_850dup
ENSP00000333188.3:p.Pro284ArgfsTer?
NM_023067.3:c.840_850dup
NP_075555.1:p.Pro284ArgfsTer?
NM_023067.4:c.840_850dup
MANE Select
NP_075555.1:p.Pro284ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'