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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:
CA2677060238
Gene: FOXC1
HGNC
NCBI
Linked Data
dbSNP Id:
rs2113110181
gnomAD v4:
6-1610264-CGCCGGAGGA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.1610268_1610276del , CM000668.2:g.1610268_1610276del
GRCh38
NC_000006.11:g.1610503_1610511del , CM000668.1:g.1610503_1610511del
GRCh37
NC_000006.10:g.1555502_1555510del
NCBI36
NG_009368.1:g.4823_4831del
Transcript Alleles
HGVS
Amino-acid change
ENST00000645831.2:c.-178_-170del
MANE Select
ENSP00000493906.1:n.-178_-170del
ENST00000380874.3:c.-178_-170del
ENSP00000370256.2:n.-178_-170del
NM_001453.3:c.-178_-170del
MANE Select
NP_001444.2:n.-178_-170del
Search 100 bp 5'
Search 100 bp 3'