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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:
CA1605822474
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610733_1610736delinsCAAG , CM000668.2:g.1610733_1610736delinsCAAG
GRCh38
NC_000006.11:g.1610968_1610971delinsCAAG , CM000668.1:g.1610968_1610971delinsCAAG
GRCh37
NC_000006.10:g.1555967_1555970delinsCAAG
NCBI36
NG_009368.1:g.5288_5291delinsCAAG
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.288_291delinsCAAG
MANE Select
ENSP00000493906.1:p.Asp96=
ENST00000380874.3:c.288_291delinsCAAG
ENSP00000370256.2:p.Asp96=
NM_001453.2:c.288_291delinsCAAG
NP_001444.2:p.Asp96=
NM_001453.3:c.288_291delinsCAAG
MANE Select
NP_001444.2:p.Asp96=
Search 100 bp 5'
Search 100 bp 3'