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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
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Canonical Allele Identifier:
CA2616706147
Gene: CDON
HGNC
NCBI
VSIG10L2
HGNC
NCBI
Linked Data
gnomAD v4:
11-125956711-GC-G
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.125956712del , CM000673.2:g.125956712del
GRCh38
NC_000011.9:g.125826607del , CM000673.1:g.125826607del
GRCh37
NC_000011.8:g.125331817del
NCBI36
NG_029776.1:g.111581del
Transcript Alleles
HGVS
Amino-acid change
ENST00000684078.1:c.*4230del
(CDON)
ENSP00000507318.1:n.*4230del
ENST00000638636.2:c.3102del
(VSIG10L2)
ENSP00000491467.1:n.3102del
ENST00000392693.7:c.*4230del
(CDON)
ENSP00000376458.3:n.*4230del
XM_006718950.2:c.3498del
(VSIG10L2)
XP_006719013.2:n.3498del
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