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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:
CA2677060459
Gene: FOXC1
HGNC
NCBI
Linked Data
gnomAD v4:
6-1611048-CCCGCCCGCGCCGCCGGAGCAGGCCGACGGCAACGCGCCCGGTCCGCAGCCG-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1611056_1611106del , CM000668.2:g.1611056_1611106del
GRCh38
NC_000006.11:g.1611291_1611341del , CM000668.1:g.1611291_1611341del
GRCh37
NC_000006.10:g.1556290_1556340del
NCBI36
NG_009368.1:g.5611_5661del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.611_661del
MANE Select
ENSP00000493906.1:p.Ala204_Pro220del
ENST00000380874.3:c.611_661del
ENSP00000370256.2:p.Ala204_Pro220del
NM_001453.2:c.611_661del
NP_001444.2:p.Ala204_Pro220del
NM_001453.3:c.611_661del
MANE Select
NP_001444.2:p.Ala204_Pro220del
Search 100 bp 5'
Search 100 bp 3'