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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:
CA1605823702
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1612811_1612812delinsAT , CM000668.2:g.1612811_1612812delinsAT
GRCh38
NC_000006.11:g.1613046_1613047delinsAT , CM000668.1:g.1613046_1613047delinsAT
GRCh37
NC_000006.10:g.1558045_1558046delinsAT
NCBI36
NG_009368.1:g.7366_7367delinsAT
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.*704_*705delinsAT
MANE Select
ENSP00000493906.1:n.*704_*705delinsAT
ENST00000380874.3:c.*704_*705delinsAT
ENSP00000370256.2:n.*704_*705delinsAT
NM_001453.2:c.2366_2367delinsAT
NP_001444.2:n.2366_2367delinsAT
NM_001453.3:c.*704_*705delinsAT
MANE Select
NP_001444.2:n.*704_*705delinsAT
Search 100 bp 5'
Search 100 bp 3'