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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:
CA2713404077
Gene: CCDC170
HGNC
NCBI
Linked Data
dbSNP Id:
rs2115154864
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151618732del , CM000668.2:g.151618732del
GRCh38
NC_000006.11:g.151939867del , CM000668.1:g.151939867del
GRCh37
NC_000006.10:g.151981560del
NCBI36
NG_021198.1:g.129693del
Transcript Alleles
HGVS
Amino-acid Change
ENST00000239374.8:c.*585del
MANE Select
ENSP00000239374.6:n.*585del
ENST00000239374.7:c.*585del
ENSP00000239374.6:n.*585del
NM_025059.3:c.*585del
NP_079335.2:n.*585del
XM_011536147.1:c.*585del
XP_011534449.1:n.*585del
XM_011536148.1:c.*585del
XP_011534450.1:n.*585del
XM_011536147.2:c.*585del
XP_011534449.1:n.*585del
XM_011536148.2:c.*585del
XP_011534450.1:n.*585del
NM_025059.4:c.*585del
MANE Select
NP_079335.2:n.*585del
Search 100 bp 5'
Search 100 bp 3'