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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:
CA1095909495
Gene: CCDC170
HGNC
NCBI
Linked Data
gnomAD v3:
6-151526655-A-AG
gnomAD v4:
6-151526655-A-AG
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151526655_151526656insG , CM000668.2:g.151526655_151526656insG
GRCh38
NC_000006.11:g.151847790_151847791insG , CM000668.1:g.151847790_151847791insG
GRCh37
NC_000006.10:g.151889483_151889484insG
NCBI36
NG_021198.1:g.37616_37617insG
Transcript Alleles
HGVS
Amino-acid change
ENST00000239374.8:c.58-9663_58-9662insG
MANE Select
ENSP00000239374.6:n.58-9663_58-9662insG
ENST00000239374.7:c.58-9663_58-9662insG
ENSP00000239374.6:n.58-9663_58-9662insG
NM_025059.3:c.58-9663_58-9662insG
NP_079335.2:n.58-9663_58-9662insG
NM_025059.4:c.58-9663_58-9662insG
MANE Select
NP_079335.2:n.58-9663_58-9662insG
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