×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA913189441
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
634971
ClinVar RCV Id:
RCV000785846
dbSNP Id:
rs1559922470
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946336del , CM000665.2:g.138946336del
GRCh38
NC_000003.11:g.138665178del , CM000665.1:g.138665178del
GRCh37
NC_000003.10:g.140147868del
NCBI36
NG_012454.1:g.5805del
NG_029796.1:g.4103del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.387del
MANE Select
ENSP00000497217.1:p.Leu130TrpfsTer20
ENST00000330315.3:c.387del
ENSP00000333188.3:p.Leu130TrpfsTer20
NM_023067.3:c.387del
NP_075555.1:p.Leu130TrpfsTer20
NM_023067.4:c.387del
MANE Select
NP_075555.1:p.Leu130TrpfsTer20
Search 100 bp 5'
Search 100 bp 3'