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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:
CA2695205851
Gene: FOXC1
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610594_1610601del , CM000668.2:g.1610594_1610601del
GRCh38
NC_000006.11:g.1610829_1610836del , CM000668.1:g.1610829_1610836del
GRCh37
NC_000006.10:g.1555828_1555835del
NCBI36
NG_009368.1:g.5149_5156del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.149_156del
MANE Select
ENSP00000493906.1:p.Pro50ArgfsTer30
ENST00000380874.3:c.149_156del
ENSP00000370256.2:p.Pro50ArgfsTer30
NM_001453.2:c.149_156del
NP_001444.2:p.Pro50ArgfsTer30
NM_001453.3:c.149_156del
MANE Select
NP_001444.2:p.Pro50ArgfsTer30
Search 100 bp 5'
Search 100 bp 3'