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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
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Canonical Allele Identifier:
CA1445844282
Gene: CCKAR
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000004.12:g.26490136_26490139delinsTAAC , CM000666.2:g.26490136_26490139delinsTAAC
GRCh38
NC_000004.11:g.26491758_26491761delinsTAAC , CM000666.1:g.26491758_26491761delinsTAAC
GRCh37
NC_000004.10:g.26100856_26100859delinsTAAC
NCBI36
NG_012053.1:g.5282_5285delinsGTTA
Transcript Alleles
HGVS
Amino-acid change
ENST00000295589.4:c.112+17_112+20delinsGTTA
MANE Select
ENSP00000295589.3:n.112+17_112+20delinsGT...
ENST00000295589.3:c.112+17_112+20delinsGTTA
ENSP00000295589.3:n.112+17_112+20delinsGT...
NM_000730.2:c.112+17_112+20delinsGTTA
NP_000721.1:n.112+17_112+20delinsGTTA
NM_000730.3:c.112+17_112+20delinsGTTA
MANE Select
NP_000721.1:n.112+17_112+20delinsGTTA
Search 100 bp 5'
Search 100 bp 3'