Canonical Allele Identifier: CA2768445552

Gene: UQCRQ

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.132868835_132868838del , CM000667.2:g.132868835_132868838del	GRCh38
NC_000005.9:g.132204527_132204530del , CM000667.1:g.132204527_132204530del	GRCh37
NC_000005.8:g.132232426_132232429del	NCBI36
NG_012221.1:g.7209_7212del
NG_047051.1:g.3047_3050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000378670.8:c.*1253_*1256del MANE Select	ENSP00000367939.3:n.*1253_*1256del
NM_014402.4:c.*1253_*1256del	NP_055217.2:n.*1253_*1256del
NM_014402.5:c.*1253_*1256del MANE Select	NP_055217.2:n.*1253_*1256del