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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:
CA1405402206
Gene: FOXL2
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945865_138945867delinsAGG , CM000665.2:g.138945865_138945867delinsAGG
GRCh38
NC_000003.11:g.138664707_138664709delinsAGG , CM000665.1:g.138664707_138664709delinsAGG
GRCh37
NC_000003.10:g.140147397_140147399delinsAGG
NCBI36
NG_012454.1:g.6274_6276delinsCCT
NG_029796.1:g.3632_3634delinsAGG
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.856_858delinsCCT
MANE Select
ENSP00000497217.1:p.Pro286=
ENST00000330315.3:c.856_858delinsCCT
ENSP00000333188.3:p.Pro286=
NM_023067.3:c.856_858delinsCCT
NP_075555.1:p.Pro286=
NM_023067.4:c.856_858delinsCCT
MANE Select
NP_075555.1:p.Pro286=
Search 100 bp 5'
Search 100 bp 3'