Canonical Allele Identifier: CA2361599968

Gene: UQCC1

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35319322_35319333delinsAGCATGTCACAG , CM000682.2:g.35319322_35319333delinsAGCATGTCACAG	GRCh38
NC_000020.10:g.33907125_33907136delinsAGCATGTCACAG , CM000682.1:g.33907125_33907136delinsAGCATGTCACAG	GRCh37
NC_000020.9:g.33370539_33370550delinsAGCATGTCACAG	NCBI36
NG_021421.1:g.97810_97821delinsCTGTGACATGCT

Transcript Alleles

HGVS	Amino-acid change
ENST00000453855.6:c.268-4626_268-4615delinsCTGTGACATGCT	ENSP00000390334.2:n.268-4626_268-4615deli...
ENST00000374385.10:c.574-4568_574-4557delinsCTGTGACATGCT MANE Select	ENSP00000363506.5:n.574-4568_574-4557deli...
ENST00000349714.9:c.493-4568_493-4557delinsCTGTGACATGCT	ENSP00000335364.6:n.493-4568_493-4557deli...
ENST00000359226.6:c.334-4568_334-4557delinsCTGTGACATGCT	ENSP00000352161.2:n.334-4568_334-4557deli...
ENST00000374380.6:c.370-4568_370-4557delinsCTGTGACATGCT	ENSP00000363501.2:n.370-4568_370-4557deli...
ENST00000374384.6:c.574-12554_574-12543delinsCTGTGACATGCT	ENSP00000363505.2:n.574-12554_574-12543de...
ENST00000374385.9:c.574-4568_574-4557delinsCTGTGACATGCT	ENSP00000363506.5:n.574-4568_574-4557deli...
ENST00000374394.7:c.*555-4568_*555-4557delinsCTGTGACATGCT	ENSP00000363515.3:n.*555-4568_*555-4557de...
ENST00000397556.7:c.355-4568_355-4557delinsCTGTGACATGCT	ENSP00000380688.4:n.355-4568_355-4557deli...
ENST00000424405.5:c.478-4568_478-4557delinsCTGTGACATGCT	ENSP00000399713.1:n.478-4568_478-4557deli...
ENST00000438533.5:c.616-4568_616-4557delinsCTGTGACATGCT	ENSP00000398531.1:n.616-4568_616-4557deli...
ENST00000443429.5:c.*126-4568_*126-4557delinsCTGTGACATGCT	ENSP00000416246.1:n.*126-4568_*126-4557de...
ENST00000453855.5:c.265-4626_265-4615delinsCTGTGACATGCT	ENSP00000390334.1:n.265-4626_265-4615deli...
ENST00000457259.5:c.292-4568_292-4557delinsCTGTGACATGCT
ENST00000497717.5:n.64-4568_64-4557delinsCTGTGACATGCT
NM_001184977.1:c.370-4568_370-4557delinsCTGTGACATGCT	NP_001171906.1:n.370-4568_370-4557delinsC...
NM_018244.4:c.574-4568_574-4557delinsCTGTGACATGCT	NP_060714.3:n.574-4568_574-4557delinsCTGT...
NM_199487.2:c.574-12554_574-12543delinsCTGTGACATGCT	NP_955781.2:n.574-12554_574-12543delinsCT...
XM_011528877.1:c.616-4568_616-4557delinsCTGTGACATGCT	XP_011527179.1:n.616-4568_616-4557delinsC...
XM_011528878.1:c.478-4568_478-4557delinsCTGTGACATGCT	XP_011527180.1:n.478-4568_478-4557delinsC...
XM_011528879.1:c.436-4568_436-4557delinsCTGTGACATGCT	XP_011527181.1:n.436-4568_436-4557delinsC...
XM_011528880.1:c.436-4568_436-4557delinsCTGTGACATGCT	XP_011527182.1:n.436-4568_436-4557delinsC...
XM_011528881.1:c.277-4568_277-4557delinsCTGTGACATGCT	XP_011527183.1:n.277-4568_277-4557delinsC...
XM_011528882.1:c.172-4568_172-4557delinsCTGTGACATGCT	XP_011527184.1:n.172-4568_172-4557delinsC...
XM_011528883.1:c.172-4568_172-4557delinsCTGTGACATGCT	XP_011527185.1:n.172-4568_172-4557delinsC...
XM_011528884.1:c.172-4568_172-4557delinsCTGTGACATGCT	XP_011527186.1:n.172-4568_172-4557delinsC...
XM_011528878.2:c.478-4568_478-4557delinsCTGTGACATGCT	XP_011527180.1:n.478-4568_478-4557delinsC...
XM_011528880.2:c.436-4568_436-4557delinsCTGTGACATGCT	XP_011527182.1:n.436-4568_436-4557delinsC...
XM_011528881.3:c.277-4568_277-4557delinsCTGTGACATGCT	XP_011527183.1:n.277-4568_277-4557delinsC...
XM_011528882.2:c.172-4568_172-4557delinsCTGTGACATGCT	XP_011527184.1:n.172-4568_172-4557delinsC...
XM_011528883.2:c.172-4568_172-4557delinsCTGTGACATGCT	XP_011527185.1:n.172-4568_172-4557delinsC...
XM_011528884.2:c.172-4568_172-4557delinsCTGTGACATGCT	XP_011527186.1:n.172-4568_172-4557delinsC...
NM_018244.5:c.574-4568_574-4557delinsCTGTGACATGCT MANE Select	NP_060714.3:n.574-4568_574-4557delinsCTGT...
NM_001184977.2:c.370-4568_370-4557delinsCTGTGACATGCT	NP_001171906.1:n.370-4568_370-4557delinsC...
NM_199487.3:c.574-12554_574-12543delinsCTGTGACATGCT	NP_955781.2:n.574-12554_574-12543delinsCT...