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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:
CA1583356695
Gene: UQCRQ
HGNC
NCBI
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000005.10:g.132868690_132868691delinsGA , CM000667.2:g.132868690_132868691delinsGA
GRCh38
NC_000005.9:g.132204382_132204383delinsGA , CM000667.1:g.132204382_132204383delinsGA
GRCh37
NC_000005.8:g.132232281_132232282delinsGA
NCBI36
NG_012221.1:g.7064_7065delinsGA
NG_047051.1:g.3194_3195delinsTC
Transcript Alleles
HGVS
Amino-acid change
ENST00000378670.8:c.*1108_*1109delinsGA
MANE Select
ENSP00000367939.3:n.*1108_*1109delinsGA
NM_014402.4:c.*1108_*1109delinsGA
NP_055217.2:n.*1108_*1109delinsGA
NM_014402.5:c.*1108_*1109delinsGA
MANE Select
NP_055217.2:n.*1108_*1109delinsGA
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