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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:
CA1405402092
Gene: FOXL2
HGNC
NCBI
Linked Data
dbSNP Id:
rs1935941036
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000003.12:g.138945682_138945708del , CM000665.2:g.138945682_138945708del
GRCh38
NC_000003.11:g.138664524_138664550del , CM000665.1:g.138664524_138664550del
GRCh37
NC_000003.10:g.140147214_140147240del
NCBI36
NG_012454.1:g.6433_6459del
NG_029796.1:g.3449_3475del
Transcript Alleles
HGVS
Amino-acid change
ENST00000648323.1:c.1015_1041del
MANE Select
ENSP00000497217.1:p.Ser339_Cys347del
ENST00000330315.3:c.1015_1041del
ENSP00000333188.3:p.Ser339_Cys347del
NM_023067.3:c.1015_1041del
NP_075555.1:p.Ser339_Cys347del
NM_023067.4:c.1015_1041del
MANE Select
NP_075555.1:p.Ser339_Cys347del
Search 100 bp 5'
Search 100 bp 3'