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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:
CA1095909502
Gene: CCDC170
HGNC
NCBI
Linked Data
gnomAD v3:
6-151526655-ATGGCGT-A
gnomAD v4:
6-151526655-ATGGCGT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151526656_151526661del , CM000668.2:g.151526656_151526661del
GRCh38
NC_000006.11:g.151847791_151847796del , CM000668.1:g.151847791_151847796del
GRCh37
NC_000006.10:g.151889484_151889489del
NCBI36
NG_021198.1:g.37617_37622del
Transcript Alleles
HGVS
Amino-acid change
ENST00000239374.8:c.58-9662_58-9657del
MANE Select
ENSP00000239374.6:n.58-9662_58-9657del
ENST00000239374.7:c.58-9662_58-9657del
ENSP00000239374.6:n.58-9662_58-9657del
NM_025059.3:c.58-9662_58-9657del
NP_079335.2:n.58-9662_58-9657del
NM_025059.4:c.58-9662_58-9657del
MANE Select
NP_079335.2:n.58-9662_58-9657del
Search 100 bp 5'
Search 100 bp 3'