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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:
CA1605823684
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1612786_1612790delinsATTGT , CM000668.2:g.1612786_1612790delinsATTGT
GRCh38
NC_000006.11:g.1613021_1613025delinsATTGT , CM000668.1:g.1613021_1613025delinsATTGT
GRCh37
NC_000006.10:g.1558020_1558024delinsATTGT
NCBI36
NG_009368.1:g.7341_7345delinsATTGT
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.*679_*683delinsATTGT
MANE Select
ENSP00000493906.1:n.*679_*683delinsATTGT
ENST00000380874.3:c.*679_*683delinsATTGT
ENSP00000370256.2:n.*679_*683delinsATTGT
NM_001453.2:c.2341_2345delinsATTGT
NP_001444.2:n.2341_2345delinsATTGT
NM_001453.3:c.*679_*683delinsATTGT
MANE Select
NP_001444.2:n.*679_*683delinsATTGT
Search 100 bp 5'
Search 100 bp 3'