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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:
CA1095909434
Gene: CCDC170
HGNC
NCBI
Linked Data
gnomAD v3:
6-151526636-C-CT
gnomAD v4:
6-151526636-C-CT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151526637dup , CM000668.2:g.151526637dup
GRCh38
NC_000006.11:g.151847772dup , CM000668.1:g.151847772dup
GRCh37
NC_000006.10:g.151889465dup
NCBI36
NG_021198.1:g.37598dup
Transcript Alleles
HGVS
Amino-acid change
ENST00000239374.8:c.58-9681dup
MANE Select
ENSP00000239374.6:n.58-9681dup
ENST00000239374.7:c.58-9681dup
ENSP00000239374.6:n.58-9681dup
NM_025059.3:c.58-9681dup
NP_079335.2:n.58-9681dup
NM_025059.4:c.58-9681dup
MANE Select
NP_079335.2:n.58-9681dup
Search 100 bp 5'
Search 100 bp 3'