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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:
CA2517171823
Gene: FOXL2
HGNC
NCBI
Linked Data
gnomAD v4:
3-138945862-CGGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945865_138945867del , CM000665.2:g.138945865_138945867del
GRCh38
NC_000003.11:g.138664707_138664709del , CM000665.1:g.138664707_138664709del
GRCh37
NC_000003.10:g.140147397_140147399del
NCBI36
NG_012454.1:g.6276_6278del
NG_029796.1:g.3632_3634del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.858_860del
MANE Select
ENSP00000497217.1:p.Pro287del
ENST00000330315.3:c.858_860del
ENSP00000333188.3:p.Pro287del
NM_023067.3:c.858_860del
NP_075555.1:p.Pro287del
NM_023067.4:c.858_860del
MANE Select
NP_075555.1:p.Pro287del
Search 100 bp 5'
Search 100 bp 3'