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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:
CA913189442
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
634969
ClinVar RCV Id:
RCV000785844
dbSNP Id:
rs1559922473
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946340del , CM000665.2:g.138946340del
GRCh38
NC_000003.11:g.138665182del , CM000665.1:g.138665182del
GRCh37
NC_000003.10:g.140147872del
NCBI36
NG_012454.1:g.5802del
NG_029796.1:g.4107del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.384del
MANE Select
ENSP00000497217.1:p.Trp128Ter
ENST00000330315.3:c.384del
ENSP00000333188.3:p.Trp128Ter
NM_023067.3:c.384del
NP_075555.1:p.Trp128Ter
NM_023067.4:c.384del
MANE Select
NP_075555.1:p.Trp128Ter
Search 100 bp 5'
Search 100 bp 3'