Canonical Allele Identifier: CA2650796247

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984946-CTG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984947_226984948del , CM000663.2:g.226984947_226984948del	GRCh38
NC_000001.10:g.227172648_227172649del , CM000663.1:g.227172648_227172649del	GRCh37
NC_000001.9:g.225239271_225239272del	NCBI36
NG_012825.1:g.49711_49712del
NG_012825.2:g.92412_92413del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1572+6_1572+7del MANE Select	ENSP00000355739.3:n.1572+6_1572+7del
ENST00000366779.6:c.*6299+6_*6299+7del	ENSP00000355741.2:n.*6299+6_*6299+7del
ENST00000366777.3:c.1572+6_1572+7del	ENSP00000355739.3:n.1572+6_1572+7del
ENST00000366778.5:c.1416+6_1416+7del	ENSP00000355740.1:n.1416+6_1416+7del
ENST00000366779.5:c.1572+6_1572+7del	ENSP00000355741.1:n.1572+6_1572+7del
ENST00000478406.5:n.2434+6_2434+7del
ENST00000479852.1:n.759+6_759+7del
ENST00000485462.5:n.962+6_962+7del
NM_020247.4:c.1572+6_1572+7del	NP_064632.2:n.1572+6_1572+7del
XM_005273201.1:c.1572+6_1572+7del	XP_005273258.1:n.1572+6_1572+7del
XM_011544238.1:c.1572+6_1572+7del	XP_011542540.1:n.1572+6_1572+7del
XM_011544239.1:c.1572+6_1572+7del	XP_011542541.1:n.1572+6_1572+7del
XM_011544240.1:c.1572+6_1572+7del	XP_011542542.1:n.1572+6_1572+7del
XM_011544241.1:c.1572+6_1572+7del	XP_011542543.1:n.1572+6_1572+7del
XM_011544239.2:c.1572+6_1572+7del	XP_011542541.1:n.1572+6_1572+7del
XM_011544241.2:c.1572+6_1572+7del	XP_011542543.1:n.1572+6_1572+7del
XM_017001852.1:c.1572+6_1572+7del	XP_016857341.1:n.1572+6_1572+7del
XM_024448517.1:c.1572+6_1572+7del	XP_024304285.1:n.1572+6_1572+7del
XM_024448518.1:c.1572+6_1572+7del	XP_024304286.1:n.1572+6_1572+7del
NM_020247.5:c.1572+6_1572+7del MANE Select	NP_064632.2:n.1572+6_1572+7del