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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:
CA1605822295
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610438_1610439delinsCG , CM000668.2:g.1610438_1610439delinsCG
GRCh38
NC_000006.11:g.1610673_1610674delinsCG , CM000668.1:g.1610673_1610674delinsCG
GRCh37
NC_000006.10:g.1555672_1555673delinsCG
NCBI36
NG_009368.1:g.4993_4994delinsCG
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.-8_-7delinsCG
MANE Select
ENSP00000493906.1:n.-8_-7delinsCG
ENST00000380874.3:c.-8_-7delinsCG
ENSP00000370256.2:n.-8_-7delinsCG
NM_001453.3:c.-8_-7delinsCG
MANE Select
NP_001444.2:n.-8_-7delinsCG
Search 100 bp 5'
Search 100 bp 3'