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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:
CA2239913451
Gene: FOXF1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000016.10:g.86510804_86510806delinsCAG , CM000678.2:g.86510804_86510806delinsCAG
GRCh38
NC_000016.9:g.86544410_86544412delinsCAG , CM000678.1:g.86544410_86544412delinsCAG
GRCh37
NC_000016.8:g.85101911_85101913delinsCAG
NCBI36
NG_016273.1:g.5278_5280delinsCAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000262426.6:c.235_237delinsCAG
MANE Select
ENSP00000262426.4:p.Gln79=
ENST00000262426.5:c.235_237delinsCAG
ENSP00000262426.4:p.Gln79=
NM_001451.2:c.235_237delinsCAG
NP_001442.2:p.Gln79=
NM_001451.3:c.235_237delinsCAG
MANE Select
NP_001442.2:p.Gln79=
Search 100 bp 5'
Search 100 bp 3'