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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:
CA273046
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
162044
ClinVar RCV Id:
RCV000149461
dbSNP Id:
rs672601358
MyVariant Identifiers:
chr3:g.138664582_138664600dup19 (hg19)
chr3:g.138664581_138664582insGCTGGGCTGGCAGGGCTGA (hg19)
chr3:g.138945740_138945758dup19 (hg38)
chr3:g.138945739_138945740insGCTGGGCTGGCAGGGCTGA (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945745_138945763dup , CM000665.2:g.138945745_138945763dup
GRCh38
NC_000003.11:g.138664587_138664605dup , CM000665.1:g.138664587_138664605dup
GRCh37
NC_000003.10:g.140147277_140147295dup
NCBI36
NG_012454.1:g.6383_6401dup
NG_029796.1:g.3512_3530dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.965_983dup
MANE Select
ENSP00000497217.1:p.Thr329GlnfsTer?
ENST00000330315.3:c.965_983dup
ENSP00000333188.3:p.Thr329GlnfsTer?
NM_023067.3:c.965_983dup
NP_075555.1:p.Thr329GlnfsTer?
NM_023067.4:c.965_983dup
MANE Select
NP_075555.1:p.Thr329GlnfsTer?
Search 100 bp 5'
Search 100 bp 3'