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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:
CA2773569515
Gene: CCDC170
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151526852del , CM000668.2:g.151526852del
GRCh38
NC_000006.11:g.151847987del , CM000668.1:g.151847987del
GRCh37
NC_000006.10:g.151889680del
NCBI36
NG_021198.1:g.37813del
Transcript Alleles
HGVS
Amino-acid change
ENST00000239374.8:c.58-9466del
MANE Select
ENSP00000239374.6:n.58-9466del
ENST00000239374.7:c.58-9466del
ENSP00000239374.6:n.58-9466del
NM_025059.3:c.58-9466del
NP_079335.2:n.58-9466del
NM_025059.4:c.58-9466del
MANE Select
NP_079335.2:n.58-9466del
Search 100 bp 5'
Search 100 bp 3'