×
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:
CA2670266580
Gene: CCKAR
HGNC
NCBI
Linked Data
gnomAD v4:
4-26490129-AT-A
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.26490131del , CM000666.2:g.26490131del
GRCh38
NC_000004.11:g.26491753del , CM000666.1:g.26491753del
GRCh37
NC_000004.10:g.26100851del
NCBI36
NG_012053.1:g.5291del
Transcript Alleles
HGVS
Amino-acid change
ENST00000295589.4:c.112+26del
MANE Select
ENSP00000295589.3:n.112+26del
ENST00000295589.3:c.112+26del
ENSP00000295589.3:n.112+26del
NM_000730.2:c.112+26del
NP_000721.1:n.112+26del
NM_000730.3:c.112+26del
MANE Select
NP_000721.1:n.112+26del
Search 100 bp 5'
Search 100 bp 3'