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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:
CA2680801486
Gene: CCDC170
HGNC
NCBI
Linked Data
gnomAD v4:
6-151618609-CA-C
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151618613del , CM000668.2:g.151618613del
GRCh38
NC_000006.11:g.151939748del , CM000668.1:g.151939748del
GRCh37
NC_000006.10:g.151981441del
NCBI36
NG_021198.1:g.129574del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000239374.8:c.*466del
MANE Select
ENSP00000239374.6:n.*466del
ENST00000239374.7:c.*466del
ENSP00000239374.6:n.*466del
NM_025059.3:c.*466del
NP_079335.2:n.*466del
XM_011536147.1:c.*466del
XP_011534449.1:n.*466del
XM_011536148.1:c.*466del
XP_011534450.1:n.*466del
XM_011536147.2:c.*466del
XP_011534449.1:n.*466del
XM_011536148.2:c.*466del
XP_011534450.1:n.*466del
NM_025059.4:c.*466del
MANE Select
NP_079335.2:n.*466del
Search 100 bp 5'
Search 100 bp 3'