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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:
CA8217357
Gene: FOXF1
HGNC
NCBI
Linked Data
dbSNP Id:
rs779446648
ExAC:
16:86544292 CAACGCCGGCATCCGG / C
gnomAD v2:
16-86544292-CAACGCCGGCATCCGG-C
MyVariant Identifiers:
chr16:g.86544293_86544307del (hg19)
chr16:g.86510687_86510701del (hg38)
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86510687_86510701del , CM000678.2:g.86510687_86510701del
GRCh38
NC_000016.9:g.86544293_86544307del , CM000678.1:g.86544293_86544307del
GRCh37
NC_000016.8:g.85101794_85101808del
NCBI36
NG_016273.1:g.5161_5175del
Transcript Alleles
HGVS
Amino-acid change
ENST00000262426.6:c.118_132del
MANE Select
ENSP00000262426.4:p.Asn40_Arg44del
ENST00000262426.5:c.118_132del
ENSP00000262426.4:p.Asn40_Arg44del
NM_001451.2:c.118_132del
NP_001442.2:p.Asn40_Arg44del
NM_001451.3:c.118_132del
MANE Select
NP_001442.2:p.Asn40_Arg44del
Search 100 bp 5'
Search 100 bp 3'