Canonical Allele Identifier: CA2650793333

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982787-ACTCT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982790_226982793del , CM000663.2:g.226982790_226982793del	GRCh38
NC_000001.10:g.227170491_227170494del , CM000663.1:g.227170491_227170494del	GRCh37
NC_000001.9:g.225237114_225237117del	NCBI36
NG_012825.1:g.47554_47557del
NG_012825.2:g.90255_90258del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.939+27_939+30del MANE Select	ENSP00000355739.3:n.939+27_939+30del
ENST00000366779.6:c.*5666+27_*5666+30del	ENSP00000355741.2:n.*5666+27_*5666+30del
ENST00000676884.1:c.*5788+27_*5788+30del	ENSP00000503200.1:n.*5788+27_*5788+30del
ENST00000366777.3:c.939+27_939+30del	ENSP00000355739.3:n.939+27_939+30del
ENST00000366778.5:c.783+27_783+30del	ENSP00000355740.1:n.783+27_783+30del
ENST00000366779.5:c.939+27_939+30del	ENSP00000355741.1:n.939+27_939+30del
ENST00000478406.5:n.918+27_918+30del
ENST00000485462.5:n.329+27_329+30del
NM_020247.4:c.939+27_939+30del	NP_064632.2:n.939+27_939+30del
XM_005273201.1:c.939+27_939+30del	XP_005273258.1:n.939+27_939+30del
XM_011544238.1:c.939+27_939+30del	XP_011542540.1:n.939+27_939+30del
XM_011544239.1:c.939+27_939+30del	XP_011542541.1:n.939+27_939+30del
XM_011544240.1:c.939+27_939+30del	XP_011542542.1:n.939+27_939+30del
XM_011544241.1:c.939+27_939+30del	XP_011542543.1:n.939+27_939+30del
XM_011544239.2:c.939+27_939+30del	XP_011542541.1:n.939+27_939+30del
XM_011544241.2:c.939+27_939+30del	XP_011542543.1:n.939+27_939+30del
XM_017001852.1:c.939+27_939+30del	XP_016857341.1:n.939+27_939+30del
XM_024448517.1:c.939+27_939+30del	XP_024304285.1:n.939+27_939+30del
XM_024448518.1:c.939+27_939+30del	XP_024304286.1:n.939+27_939+30del
NM_020247.5:c.939+27_939+30del MANE Select	NP_064632.2:n.939+27_939+30del