Canonical Allele Identifier: CA1583356779
Gene: UQCRQ HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.132868838_132868839delinsCT , CM000667.2:g.132868838_132868839delinsCT GRCh38
NC_000005.9:g.132204530_132204531delinsCT , CM000667.1:g.132204530_132204531delinsCT GRCh37
NC_000005.8:g.132232429_132232430delinsCT NCBI36
NG_012221.1:g.7212_7213delinsCT
NG_047051.1:g.3046_3047delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000378670.8:c.*1256_*1257delinsCT MANE Select ENSP00000367939.3:n.*1256_*1257delinsCT
NM_014402.4:c.*1256_*1257delinsCT NP_055217.2:n.*1256_*1257delinsCT
NM_014402.5:c.*1256_*1257delinsCT MANE Select NP_055217.2:n.*1256_*1257delinsCT