Canonical Allele Identifier: CA2650793336

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982792-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982795_226982796del , CM000663.2:g.226982795_226982796del	GRCh38
NC_000001.10:g.227170496_227170497del , CM000663.1:g.227170496_227170497del	GRCh37
NC_000001.9:g.225237119_225237120del	NCBI36
NG_012825.1:g.47559_47560del
NG_012825.2:g.90260_90261del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.939+32_939+33del MANE Select	ENSP00000355739.3:n.939+32_939+33del
ENST00000366779.6:c.*5666+32_*5666+33del	ENSP00000355741.2:n.*5666+32_*5666+33del
ENST00000676884.1:c.*5788+32_*5788+33del	ENSP00000503200.1:n.*5788+32_*5788+33del
ENST00000366777.3:c.939+32_939+33del	ENSP00000355739.3:n.939+32_939+33del
ENST00000366778.5:c.783+32_783+33del	ENSP00000355740.1:n.783+32_783+33del
ENST00000366779.5:c.939+32_939+33del	ENSP00000355741.1:n.939+32_939+33del
ENST00000478406.5:n.918+32_918+33del
ENST00000485462.5:n.329+32_329+33del
NM_020247.4:c.939+32_939+33del	NP_064632.2:n.939+32_939+33del
XM_005273201.1:c.939+32_939+33del	XP_005273258.1:n.939+32_939+33del
XM_011544238.1:c.939+32_939+33del	XP_011542540.1:n.939+32_939+33del
XM_011544239.1:c.939+32_939+33del	XP_011542541.1:n.939+32_939+33del
XM_011544240.1:c.939+32_939+33del	XP_011542542.1:n.939+32_939+33del
XM_011544241.1:c.939+32_939+33del	XP_011542543.1:n.939+32_939+33del
XM_011544239.2:c.939+32_939+33del	XP_011542541.1:n.939+32_939+33del
XM_011544241.2:c.939+32_939+33del	XP_011542543.1:n.939+32_939+33del
XM_017001852.1:c.939+32_939+33del	XP_016857341.1:n.939+32_939+33del
XM_024448517.1:c.939+32_939+33del	XP_024304285.1:n.939+32_939+33del
XM_024448518.1:c.939+32_939+33del	XP_024304286.1:n.939+32_939+33del
NM_020247.5:c.939+32_939+33del MANE Select	NP_064632.2:n.939+32_939+33del