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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:
CA1605823673
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1612767_1612771delinsCTTTT , CM000668.2:g.1612767_1612771delinsCTTTT
GRCh38
NC_000006.11:g.1613002_1613006delinsCTTTT , CM000668.1:g.1613002_1613006delinsCTTTT
GRCh37
NC_000006.10:g.1558001_1558005delinsCTTTT
NCBI36
NG_009368.1:g.7322_7326delinsCTTTT
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.*660_*664delinsCTTTT
MANE Select
ENSP00000493906.1:n.*660_*664delinsCTTTT
ENST00000380874.3:c.*660_*664delinsCTTTT
ENSP00000370256.2:n.*660_*664delinsCTTTT
NM_001453.2:c.2322_2326delinsCTTTT
NP_001444.2:n.2322_2326delinsCTTTT
NM_001453.3:c.*660_*664delinsCTTTT
MANE Select
NP_001444.2:n.*660_*664delinsCTTTT
Search 100 bp 5'
Search 100 bp 3'