Canonical Allele Identifier: CA2650793496

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983118-CCCA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983120_226983122del , CM000663.2:g.226983120_226983122del	GRCh38
NC_000001.10:g.227170821_227170823del , CM000663.1:g.227170821_227170823del	GRCh37
NC_000001.9:g.225237444_225237446del	NCBI36
NG_012825.1:g.47884_47886del
NG_012825.2:g.90585_90587del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+86_1080+88del MANE Select	ENSP00000355739.3:n.1080+86_1080+88del
ENST00000366779.6:c.*5807+86_*5807+88del	ENSP00000355741.2:n.*5807+86_*5807+88del
ENST00000676884.1:c.*5929+86_*5929+88del	ENSP00000503200.1:n.*5929+86_*5929+88del
ENST00000366777.3:c.1080+86_1080+88del	ENSP00000355739.3:n.1080+86_1080+88del
ENST00000366778.5:c.924+86_924+88del	ENSP00000355740.1:n.924+86_924+88del
ENST00000366779.5:c.1080+86_1080+88del	ENSP00000355741.1:n.1080+86_1080+88del
ENST00000478406.5:n.1145_1147del
ENST00000479852.1:n.28+86_28+88del
ENST00000485462.5:n.470+86_470+88del
NM_020247.4:c.1080+86_1080+88del	NP_064632.2:n.1080+86_1080+88del
XM_005273201.1:c.1080+86_1080+88del	XP_005273258.1:n.1080+86_1080+88del
XM_011544238.1:c.1080+86_1080+88del	XP_011542540.1:n.1080+86_1080+88del
XM_011544239.1:c.1080+86_1080+88del	XP_011542541.1:n.1080+86_1080+88del
XM_011544240.1:c.1080+86_1080+88del	XP_011542542.1:n.1080+86_1080+88del
XM_011544241.1:c.1080+86_1080+88del	XP_011542543.1:n.1080+86_1080+88del
XM_011544239.2:c.1080+86_1080+88del	XP_011542541.1:n.1080+86_1080+88del
XM_011544241.2:c.1080+86_1080+88del	XP_011542543.1:n.1080+86_1080+88del
XM_017001852.1:c.1080+86_1080+88del	XP_016857341.1:n.1080+86_1080+88del
XM_024448517.1:c.1080+86_1080+88del	XP_024304285.1:n.1080+86_1080+88del
XM_024448518.1:c.1080+86_1080+88del	XP_024304286.1:n.1080+86_1080+88del
NM_020247.5:c.1080+86_1080+88del MANE Select	NP_064632.2:n.1080+86_1080+88del