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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:
CA1405402207
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945868_138945869delinsCG , CM000665.2:g.138945868_138945869delinsCG
GRCh38
NC_000003.11:g.138664710_138664711delinsCG , CM000665.1:g.138664710_138664711delinsCG
GRCh37
NC_000003.10:g.140147400_140147401delinsCG
NCBI36
NG_012454.1:g.6272_6273delinsCG
NG_029796.1:g.3635_3636delinsCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.854_855delinsCG
MANE Select
ENSP00000497217.1:p.Pro285=
ENST00000330315.3:c.854_855delinsCG
ENSP00000333188.3:p.Pro285=
NM_023067.3:c.854_855delinsCG
NP_075555.1:p.Pro285=
NM_023067.4:c.854_855delinsCG
MANE Select
NP_075555.1:p.Pro285=
Search 100 bp 5'
Search 100 bp 3'