×
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:
CA2739278056
Gene: FOXL2
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2812867
ClinVar RCV Id:
RCV003677729
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138946325_138946335del , CM000665.2:g.138946325_138946335del
GRCh38
NC_000003.11:g.138665167_138665177del , CM000665.1:g.138665167_138665177del
GRCh37
NC_000003.10:g.140147857_140147867del
NCBI36
NG_012454.1:g.5809_5819del
NG_029796.1:g.4092_4102del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.391_401del
MANE Select
ENSP00000497217.1:p.Asp131ArgfsTer?
ENST00000330315.3:c.391_401del
ENSP00000333188.3:p.Asp131ArgfsTer?
NM_023067.3:c.391_401del
NP_075555.1:p.Asp131ArgfsTer?
NM_023067.4:c.391_401del
MANE Select
NP_075555.1:p.Asp131ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'