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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:
CA1605822537
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610851_1610854delinsTTCG , CM000668.2:g.1610851_1610854delinsTTCG
GRCh38
NC_000006.11:g.1611086_1611089delinsTTCG , CM000668.1:g.1611086_1611089delinsTTCG
GRCh37
NC_000006.10:g.1556085_1556088delinsTTCG
NCBI36
NG_009368.1:g.5406_5409delinsTTCG
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.406_409delinsTTCG
MANE Select
ENSP00000493906.1:p.Phe136=
ENST00000380874.3:c.406_409delinsTTCG
ENSP00000370256.2:p.Phe136=
NM_001453.2:c.406_409delinsTTCG
NP_001444.2:p.Phe136=
NM_001453.3:c.406_409delinsTTCG
MANE Select
NP_001444.2:p.Phe136=
Search 100 bp 5'
Search 100 bp 3'