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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:
CA2677060370
Gene: FOXC1
HGNC
NCBI
Linked Data
gnomAD v4:
6-1610400-AGGGTGGG-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610404_1610410del , CM000668.2:g.1610404_1610410del
GRCh38
NC_000006.11:g.1610639_1610645del , CM000668.1:g.1610639_1610645del
GRCh37
NC_000006.10:g.1555638_1555644del
NCBI36
NG_009368.1:g.4959_4965del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-42_-36del
MANE Select
ENSP00000493906.1:n.-42_-36del
ENST00000380874.3:c.-42_-36del
ENSP00000370256.2:n.-42_-36del
NM_001453.3:c.-42_-36del
MANE Select
NP_001444.2:n.-42_-36del
Search 100 bp 5'
Search 100 bp 3'