Canonical Allele Identifier: CA2650793540

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983165-GTCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983169_226983171del , CM000663.2:g.226983169_226983171del	GRCh38
NC_000001.10:g.227170870_227170872del , CM000663.1:g.227170870_227170872del	GRCh37
NC_000001.9:g.225237493_225237495del	NCBI36
NG_012825.1:g.47933_47935del
NG_012825.2:g.90634_90636del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+135_1080+137del MANE Select	ENSP00000355739.3:n.1080+135_1080+137del
ENST00000366779.6:c.*5807+135_*5807+137del	ENSP00000355741.2:n.*5807+135_*5807+137del
ENST00000676884.1:c.*5929+135_*5929+137del	ENSP00000503200.1:n.*5929+135_*5929+137del
ENST00000366777.3:c.1080+135_1080+137del	ENSP00000355739.3:n.1080+135_1080+137del
ENST00000366778.5:c.924+135_924+137del	ENSP00000355740.1:n.924+135_924+137del
ENST00000366779.5:c.1080+135_1080+137del	ENSP00000355741.1:n.1080+135_1080+137del
ENST00000478406.5:n.1194_1196del
ENST00000479852.1:n.28+135_28+137del
ENST00000485462.5:n.470+135_470+137del
NM_020247.4:c.1080+135_1080+137del	NP_064632.2:n.1080+135_1080+137del
XM_005273201.1:c.1080+135_1080+137del	XP_005273258.1:n.1080+135_1080+137del
XM_011544238.1:c.1080+135_1080+137del	XP_011542540.1:n.1080+135_1080+137del
XM_011544239.1:c.1080+135_1080+137del	XP_011542541.1:n.1080+135_1080+137del
XM_011544240.1:c.1080+135_1080+137del	XP_011542542.1:n.1080+135_1080+137del
XM_011544241.1:c.1080+135_1080+137del	XP_011542543.1:n.1080+135_1080+137del
XM_011544239.2:c.1080+135_1080+137del	XP_011542541.1:n.1080+135_1080+137del
XM_011544241.2:c.1080+135_1080+137del	XP_011542543.1:n.1080+135_1080+137del
XM_017001852.1:c.1080+135_1080+137del	XP_016857341.1:n.1080+135_1080+137del
XM_024448517.1:c.1080+135_1080+137del	XP_024304285.1:n.1080+135_1080+137del
XM_024448518.1:c.1080+135_1080+137del	XP_024304286.1:n.1080+135_1080+137del
NM_020247.5:c.1080+135_1080+137del MANE Select	NP_064632.2:n.1080+135_1080+137del