Canonical Allele Identifier: CA2650795359

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984473-CTTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984474_226984477del , CM000663.2:g.226984474_226984477del	GRCh38
NC_000001.10:g.227172175_227172178del , CM000663.1:g.227172175_227172178del	GRCh37
NC_000001.9:g.225238798_225238801del	NCBI36
NG_012825.1:g.49238_49241del
NG_012825.2:g.91939_91942del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1399-74_1399-71del MANE Select	ENSP00000355739.3:n.1399-74_1399-71del
ENST00000366779.6:c.*6126-74_*6126-71del	ENSP00000355741.2:n.*6126-74_*6126-71del
ENST00000366777.3:c.1399-74_1399-71del	ENSP00000355739.3:n.1399-74_1399-71del
ENST00000366778.5:c.1243-74_1243-71del	ENSP00000355740.1:n.1243-74_1243-71del
ENST00000366779.5:c.1399-74_1399-71del	ENSP00000355741.1:n.1399-74_1399-71del
ENST00000478406.5:n.2261-74_2261-71del
ENST00000479852.1:n.586-74_586-71del
ENST00000485462.5:n.789-74_789-71del
NM_020247.4:c.1399-74_1399-71del	NP_064632.2:n.1399-74_1399-71del
XM_005273201.1:c.1399-74_1399-71del	XP_005273258.1:n.1399-74_1399-71del
XM_011544238.1:c.1399-74_1399-71del	XP_011542540.1:n.1399-74_1399-71del
XM_011544239.1:c.1399-74_1399-71del	XP_011542541.1:n.1399-74_1399-71del
XM_011544240.1:c.1399-74_1399-71del	XP_011542542.1:n.1399-74_1399-71del
XM_011544241.1:c.1399-74_1399-71del	XP_011542543.1:n.1399-74_1399-71del
XM_011544239.2:c.1399-74_1399-71del	XP_011542541.1:n.1399-74_1399-71del
XM_011544241.2:c.1399-74_1399-71del	XP_011542543.1:n.1399-74_1399-71del
XM_017001852.1:c.1399-74_1399-71del	XP_016857341.1:n.1399-74_1399-71del
XM_024448517.1:c.1399-74_1399-71del	XP_024304285.1:n.1399-74_1399-71del
XM_024448518.1:c.1399-74_1399-71del	XP_024304286.1:n.1399-74_1399-71del
NM_020247.5:c.1399-74_1399-71del MANE Select	NP_064632.2:n.1399-74_1399-71del