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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:
CA1095909490
Gene: CCDC170
HGNC
NCBI
Linked Data
gnomAD v3:
6-151526652-A-AC
gnomAD v4:
6-151526652-A-AC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151526652_151526653insC , CM000668.2:g.151526652_151526653insC
GRCh38
NC_000006.11:g.151847787_151847788insC , CM000668.1:g.151847787_151847788insC
GRCh37
NC_000006.10:g.151889480_151889481insC
NCBI36
NG_021198.1:g.37613_37614insC
Transcript Alleles
HGVS
Amino-acid change
ENST00000239374.8:c.58-9666_58-9665insC
MANE Select
ENSP00000239374.6:n.58-9666_58-9665insC
ENST00000239374.7:c.58-9666_58-9665insC
ENSP00000239374.6:n.58-9666_58-9665insC
NM_025059.3:c.58-9666_58-9665insC
NP_079335.2:n.58-9666_58-9665insC
NM_025059.4:c.58-9666_58-9665insC
MANE Select
NP_079335.2:n.58-9666_58-9665insC
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