Canonical Allele Identifier: CA635347259

Gene: UQCC1

Linked Data

• dbSNP Id: rs1172944337
• gnomAD v2: 20-33907125-AGCATGTCACAG-A
• gnomAD v3: 20-35319322-AGCATGTCACAG-A
• gnomAD v4: 20-35319322-AGCATGTCACAG-A
• MyVariant Identifiers: chr20:g.33907126_33907136del (hg19) ; chr20:g.35319323_35319333del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.35319324_35319334del , CM000682.2:g.35319324_35319334del	GRCh38
NC_000020.10:g.33907127_33907137del , CM000682.1:g.33907127_33907137del	GRCh37
NC_000020.9:g.33370541_33370551del	NCBI36
NG_021421.1:g.97810_97820del

Transcript Alleles

HGVS	Amino-acid change
ENST00000453855.6:c.268-4626_268-4616del	ENSP00000390334.2:n.268-4626_268-4616del
ENST00000374385.10:c.574-4568_574-4558del MANE Select	ENSP00000363506.5:n.574-4568_574-4558del
ENST00000349714.9:c.493-4568_493-4558del	ENSP00000335364.6:n.493-4568_493-4558del
ENST00000359226.6:c.334-4568_334-4558del	ENSP00000352161.2:n.334-4568_334-4558del
ENST00000374380.6:c.370-4568_370-4558del	ENSP00000363501.2:n.370-4568_370-4558del
ENST00000374384.6:c.574-12554_574-12544del	ENSP00000363505.2:n.574-12554_574-12544de...
ENST00000374385.9:c.574-4568_574-4558del	ENSP00000363506.5:n.574-4568_574-4558del
ENST00000374394.7:c.*555-4568_*555-4558del	ENSP00000363515.3:n.*555-4568_*555-4558de...
ENST00000397556.7:c.355-4568_355-4558del	ENSP00000380688.4:n.355-4568_355-4558del
ENST00000424405.5:c.478-4568_478-4558del	ENSP00000399713.1:n.478-4568_478-4558del
ENST00000438533.5:c.616-4568_616-4558del	ENSP00000398531.1:n.616-4568_616-4558del
ENST00000443429.5:c.*126-4568_*126-4558del	ENSP00000416246.1:n.*126-4568_*126-4558de...
ENST00000453855.5:c.265-4626_265-4616del	ENSP00000390334.1:n.265-4626_265-4616del
ENST00000457259.5:c.292-4568_292-4558del
ENST00000497717.5:n.64-4568_64-4558del
NM_001184977.1:c.370-4568_370-4558del	NP_001171906.1:n.370-4568_370-4558del
NM_018244.4:c.574-4568_574-4558del	NP_060714.3:n.574-4568_574-4558del
NM_199487.2:c.574-12554_574-12544del	NP_955781.2:n.574-12554_574-12544del
XM_011528877.1:c.616-4568_616-4558del	XP_011527179.1:n.616-4568_616-4558del
XM_011528878.1:c.478-4568_478-4558del	XP_011527180.1:n.478-4568_478-4558del
XM_011528879.1:c.436-4568_436-4558del	XP_011527181.1:n.436-4568_436-4558del
XM_011528880.1:c.436-4568_436-4558del	XP_011527182.1:n.436-4568_436-4558del
XM_011528881.1:c.277-4568_277-4558del	XP_011527183.1:n.277-4568_277-4558del
XM_011528882.1:c.172-4568_172-4558del	XP_011527184.1:n.172-4568_172-4558del
XM_011528883.1:c.172-4568_172-4558del	XP_011527185.1:n.172-4568_172-4558del
XM_011528884.1:c.172-4568_172-4558del	XP_011527186.1:n.172-4568_172-4558del
XM_011528878.2:c.478-4568_478-4558del	XP_011527180.1:n.478-4568_478-4558del
XM_011528880.2:c.436-4568_436-4558del	XP_011527182.1:n.436-4568_436-4558del
XM_011528881.3:c.277-4568_277-4558del	XP_011527183.1:n.277-4568_277-4558del
XM_011528882.2:c.172-4568_172-4558del	XP_011527184.1:n.172-4568_172-4558del
XM_011528883.2:c.172-4568_172-4558del	XP_011527185.1:n.172-4568_172-4558del
XM_011528884.2:c.172-4568_172-4558del	XP_011527186.1:n.172-4568_172-4558del
NM_018244.5:c.574-4568_574-4558del MANE Select	NP_060714.3:n.574-4568_574-4558del
NM_001184977.2:c.370-4568_370-4558del	NP_001171906.1:n.370-4568_370-4558del
NM_199487.3:c.574-12554_574-12544del	NP_955781.2:n.574-12554_574-12544del