Canonical Allele Identifier: CA2650793962

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983644-AGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983648_226983650del , CM000663.2:g.226983648_226983650del	GRCh38
NC_000001.10:g.227171349_227171351del , CM000663.1:g.227171349_227171351del	GRCh37
NC_000001.9:g.225237972_225237974del	NCBI36
NG_012825.1:g.48412_48414del
NG_012825.2:g.91113_91115del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1162+15_1162+17del MANE Select	ENSP00000355739.3:n.1162+15_1162+17del
ENST00000366779.6:c.*5889+15_*5889+17del	ENSP00000355741.2:n.*5889+15_*5889+17del
ENST00000676884.1:c.*6011+15_*6011+17del	ENSP00000503200.1:n.*6011+15_*6011+17del
ENST00000366777.3:c.1162+15_1162+17del	ENSP00000355739.3:n.1162+15_1162+17del
ENST00000366778.5:c.1006+15_1006+17del	ENSP00000355740.1:n.1006+15_1006+17del
ENST00000366779.5:c.1162+15_1162+17del	ENSP00000355741.1:n.1162+15_1162+17del
ENST00000478406.5:n.1673_1675del
ENST00000479852.1:n.110+15_110+17del
ENST00000485462.5:n.552+15_552+17del
NM_020247.4:c.1162+15_1162+17del	NP_064632.2:n.1162+15_1162+17del
XM_005273201.1:c.1162+15_1162+17del	XP_005273258.1:n.1162+15_1162+17del
XM_011544238.1:c.1162+15_1162+17del	XP_011542540.1:n.1162+15_1162+17del
XM_011544239.1:c.1162+15_1162+17del	XP_011542541.1:n.1162+15_1162+17del
XM_011544240.1:c.1162+15_1162+17del	XP_011542542.1:n.1162+15_1162+17del
XM_011544241.1:c.1162+15_1162+17del	XP_011542543.1:n.1162+15_1162+17del
XM_011544239.2:c.1162+15_1162+17del	XP_011542541.1:n.1162+15_1162+17del
XM_011544241.2:c.1162+15_1162+17del	XP_011542543.1:n.1162+15_1162+17del
XM_017001852.1:c.1162+15_1162+17del	XP_016857341.1:n.1162+15_1162+17del
XM_024448517.1:c.1162+15_1162+17del	XP_024304285.1:n.1162+15_1162+17del
XM_024448518.1:c.1162+15_1162+17del	XP_024304286.1:n.1162+15_1162+17del
NM_020247.5:c.1162+15_1162+17del MANE Select	NP_064632.2:n.1162+15_1162+17del