Canonical Allele Identifier: CA1583356695
Gene: UQCRQ HGNC NCBI

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