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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:
CA2578515724
Gene: FOXC1
HGNC
NCBI
Linked Data
gnomAD v4:
6-1610400-AGGGT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610404_1610407del , CM000668.2:g.1610404_1610407del
GRCh38
NC_000006.11:g.1610639_1610642del , CM000668.1:g.1610639_1610642del
GRCh37
NC_000006.10:g.1555638_1555641del
NCBI36
NG_009368.1:g.4959_4962del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000645831.2:c.-42_-39del
MANE Select
ENSP00000493906.1:n.-42_-39del
ENST00000380874.3:c.-42_-39del
ENSP00000370256.2:n.-42_-39del
NM_001453.3:c.-42_-39del
MANE Select
NP_001444.2:n.-42_-39del
Search 100 bp 5'
Search 100 bp 3'