Canonical Allele Identifier: CA1583356751
Gene: UQCRQ HGNC NCBI

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