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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:
CA2667925534
Gene: FOXL2
HGNC
NCBI
Linked Data
gnomAD v4:
3-138945865-AGGCGGGGGTGCGGCCGGC-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945868_138945885del , CM000665.2:g.138945868_138945885del
GRCh38
NC_000003.11:g.138664710_138664727del , CM000665.1:g.138664710_138664727del
GRCh37
NC_000003.10:g.140147400_140147417del
NCBI36
NG_012454.1:g.6258_6275del
NG_029796.1:g.3635_3652del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000648323.1:c.840_857del
MANE Select
ENSP00000497217.1:p.Pro281_Pro286del
ENST00000330315.3:c.840_857del
ENSP00000333188.3:p.Pro281_Pro286del
NM_023067.3:c.840_857del
NP_075555.1:p.Pro281_Pro286del
NM_023067.4:c.840_857del
MANE Select
NP_075555.1:p.Pro281_Pro286del
Search 100 bp 5'
Search 100 bp 3'