×
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:
CA1095909674
Gene: CCDC170
HGNC
NCBI
Linked Data
gnomAD v3:
6-151526895-A-AT
gnomAD v4:
6-151526895-A-AT
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000006.12:g.151526903dup , CM000668.2:g.151526903dup
GRCh38
NC_000006.11:g.151848038dup , CM000668.1:g.151848038dup
GRCh37
NC_000006.10:g.151889731dup
NCBI36
NG_021198.1:g.37864dup
Transcript Alleles
HGVS
Amino-acid Change
ENST00000239374.8:c.58-9415dup
MANE Select
ENSP00000239374.6:n.58-9415dup
ENST00000239374.7:c.58-9415dup
ENSP00000239374.6:n.58-9415dup
NM_025059.3:c.58-9415dup
NP_079335.2:n.58-9415dup
NM_025059.4:c.58-9415dup
MANE Select
NP_079335.2:n.58-9415dup
Search 100 bp 5'
Search 100 bp 3'