Canonical Allele Identifier: CA2650795046

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984256-AGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984259_226984261del , CM000663.2:g.226984259_226984261del	GRCh38
NC_000001.10:g.227171960_227171962del , CM000663.1:g.227171960_227171962del	GRCh37
NC_000001.9:g.225238583_225238585del	NCBI36
NG_012825.1:g.49023_49025del
NG_012825.2:g.91724_91726del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1398+24_1398+26del MANE Select	ENSP00000355739.3:n.1398+24_1398+26del
ENST00000366779.6:c.*6125+24_*6125+26del	ENSP00000355741.2:n.*6125+24_*6125+26del
ENST00000366777.3:c.1398+24_1398+26del	ENSP00000355739.3:n.1398+24_1398+26del
ENST00000366778.5:c.1242+24_1242+26del	ENSP00000355740.1:n.1242+24_1242+26del
ENST00000366779.5:c.1398+24_1398+26del	ENSP00000355741.1:n.1398+24_1398+26del
ENST00000478406.5:n.2260+24_2260+26del
ENST00000479852.1:n.585+24_585+26del
ENST00000485462.5:n.788+24_788+26del
NM_020247.4:c.1398+24_1398+26del	NP_064632.2:n.1398+24_1398+26del
XM_005273201.1:c.1398+24_1398+26del	XP_005273258.1:n.1398+24_1398+26del
XM_011544238.1:c.1398+24_1398+26del	XP_011542540.1:n.1398+24_1398+26del
XM_011544239.1:c.1398+24_1398+26del	XP_011542541.1:n.1398+24_1398+26del
XM_011544240.1:c.1398+24_1398+26del	XP_011542542.1:n.1398+24_1398+26del
XM_011544241.1:c.1398+24_1398+26del	XP_011542543.1:n.1398+24_1398+26del
XM_011544239.2:c.1398+24_1398+26del	XP_011542541.1:n.1398+24_1398+26del
XM_011544241.2:c.1398+24_1398+26del	XP_011542543.1:n.1398+24_1398+26del
XM_017001852.1:c.1398+24_1398+26del	XP_016857341.1:n.1398+24_1398+26del
XM_024448517.1:c.1398+24_1398+26del	XP_024304285.1:n.1398+24_1398+26del
XM_024448518.1:c.1398+24_1398+26del	XP_024304286.1:n.1398+24_1398+26del
NM_020247.5:c.1398+24_1398+26del MANE Select	NP_064632.2:n.1398+24_1398+26del