×
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:
CA1604701083
Gene: CNOT6
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.180578359_180578362delinsCATT , CM000667.2:g.180578359_180578362delinsCATT
GRCh38
NC_000005.9:g.180005359_180005362delinsCATT , CM000667.1:g.180005359_180005362delinsCATT
GRCh37
NC_000005.8:g.179937965_179937968delinsCATT
NCBI36
Transcript Alleles
HGVS
Amino-acid change
ENST00000393356.5:c.*4159_*4162delinsCATT
ENSP00000377024.1:n.*4159_*4162delinsCATT
NM_001303241.1:c.*4159_*4162delinsCATT
NP_001290170.1:n.*4159_*4162delinsCATT
NM_001303241.2:c.*4159_*4162delinsCATT
NP_001290170.1:n.*4159_*4162delinsCATT
Search 100 bp 5'
Search 100 bp 3'