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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
Allele Registry
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Canonical Allele Identifier:
CA1583356751
Gene: UQCRQ
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132868769_132868770delinsGT , CM000667.2:g.132868769_132868770delinsGT
GRCh38
NC_000005.9:g.132204461_132204462delinsGT , CM000667.1:g.132204461_132204462delinsGT
GRCh37
NC_000005.8:g.132232360_132232361delinsGT
NCBI36
NG_012221.1:g.7143_7144delinsGT
NG_047051.1:g.3115_3116delinsAC
Transcript Alleles
HGVS
Amino-acid change
ENST00000378670.8:c.*1187_*1188delinsGT
MANE Select
ENSP00000367939.3:n.*1187_*1188delinsGT
NM_014402.4:c.*1187_*1188delinsGT
NP_055217.2:n.*1187_*1188delinsGT
NM_014402.5:c.*1187_*1188delinsGT
MANE Select
NP_055217.2:n.*1187_*1188delinsGT
Search 100 bp 5'
Search 100 bp 3'