×
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:
CA2704122862
Gene: FOXL2
HGNC
NCBI
Linked Data
dbSNP Id:
rs2107743422
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945872_138945878del , CM000665.2:g.138945872_138945878del
GRCh38
NC_000003.11:g.138664714_138664720del , CM000665.1:g.138664714_138664720del
GRCh37
NC_000003.10:g.140147404_140147410del
NCBI36
NG_012454.1:g.6265_6271del
NG_029796.1:g.3639_3645del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.847_853del
MANE Select
ENSP00000497217.1:p.Ala283ArgfsTer?
ENST00000330315.3:c.847_853del
ENSP00000333188.3:p.Ala283ArgfsTer?
NM_023067.3:c.847_853del
NP_075555.1:p.Ala283ArgfsTer?
NM_023067.4:c.847_853del
MANE Select
NP_075555.1:p.Ala283ArgfsTer?
Search 100 bp 5'
Search 100 bp 3'