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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:
CA2677060353
Gene: FOXC1
HGNC
NCBI
Linked Data
gnomAD v4:
6-1610383-GCGGCC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610391_1610395del , CM000668.2:g.1610391_1610395del
GRCh38
NC_000006.11:g.1610626_1610630del , CM000668.1:g.1610626_1610630del
GRCh37
NC_000006.10:g.1555625_1555629del
NCBI36
NG_009368.1:g.4946_4950del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-55_-51del
MANE Select
ENSP00000493906.1:n.-55_-51del
ENST00000380874.3:c.-55_-51del
ENSP00000370256.2:n.-55_-51del
NM_001453.3:c.-55_-51del
MANE Select
NP_001444.2:n.-55_-51del
Search 100 bp 5'
Search 100 bp 3'