×
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
Register
Login
Forgot Login?
Canonical Allele Identifier:
CA917888785
Gene: CCDC170
HGNC
NCBI
Linked Data
dbSNP Id:
rs1554227696
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151618629del , CM000668.2:g.151618629del
GRCh38
NC_000006.11:g.151939764del , CM000668.1:g.151939764del
GRCh37
NC_000006.10:g.151981457del
NCBI36
NG_021198.1:g.129590del
Transcript Alleles
HGVS
Amino-acid change
ENST00000239374.8:c.*482del
MANE Select
ENSP00000239374.6:n.*482del
ENST00000239374.7:c.*482del
ENSP00000239374.6:n.*482del
NM_025059.3:c.*482del
NP_079335.2:n.*482del
XM_011536147.1:c.*482del
XP_011534449.1:n.*482del
XM_011536148.1:c.*482del
XP_011534450.1:n.*482del
XM_011536147.2:c.*482del
XP_011534449.1:n.*482del
XM_011536148.2:c.*482del
XP_011534450.1:n.*482del
NM_025059.4:c.*482del
MANE Select
NP_079335.2:n.*482del
Search 100 bp 5'
Search 100 bp 3'