Canonical Allele Identifier: CA2650795286

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984430-CAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984432_226984433del , CM000663.2:g.226984432_226984433del	GRCh38
NC_000001.10:g.227172133_227172134del , CM000663.1:g.227172133_227172134del	GRCh37
NC_000001.9:g.225238756_225238757del	NCBI36
NG_012825.1:g.49196_49197del
NG_012825.2:g.91897_91898del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-116_1399-115del MANE Select	ENSP00000355739.3:n.1399-116_1399-115del
ENST00000366779.6:c.*6126-116_*6126-115del	ENSP00000355741.2:n.*6126-116_*6126-115del
ENST00000366777.3:c.1399-116_1399-115del	ENSP00000355739.3:n.1399-116_1399-115del
ENST00000366778.5:c.1243-116_1243-115del	ENSP00000355740.1:n.1243-116_1243-115del
ENST00000366779.5:c.1399-116_1399-115del	ENSP00000355741.1:n.1399-116_1399-115del
ENST00000478406.5:n.2261-116_2261-115del
ENST00000479852.1:n.586-116_586-115del
ENST00000485462.5:n.789-116_789-115del
NM_020247.4:c.1399-116_1399-115del	NP_064632.2:n.1399-116_1399-115del
XM_005273201.1:c.1399-116_1399-115del	XP_005273258.1:n.1399-116_1399-115del
XM_011544238.1:c.1399-116_1399-115del	XP_011542540.1:n.1399-116_1399-115del
XM_011544239.1:c.1399-116_1399-115del	XP_011542541.1:n.1399-116_1399-115del
XM_011544240.1:c.1399-116_1399-115del	XP_011542542.1:n.1399-116_1399-115del
XM_011544241.1:c.1399-116_1399-115del	XP_011542543.1:n.1399-116_1399-115del
XM_011544239.2:c.1399-116_1399-115del	XP_011542541.1:n.1399-116_1399-115del
XM_011544241.2:c.1399-116_1399-115del	XP_011542543.1:n.1399-116_1399-115del
XM_017001852.1:c.1399-116_1399-115del	XP_016857341.1:n.1399-116_1399-115del
XM_024448517.1:c.1399-116_1399-115del	XP_024304285.1:n.1399-116_1399-115del
XM_024448518.1:c.1399-116_1399-115del	XP_024304286.1:n.1399-116_1399-115del
NM_020247.5:c.1399-116_1399-115del MANE Select	NP_064632.2:n.1399-116_1399-115del