Canonical Allele Identifier: CA2650793067

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982368-AGGT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982372_226982374del , CM000663.2:g.226982372_226982374del	GRCh38
NC_000001.10:g.227170073_227170075del , CM000663.1:g.227170073_227170075del	GRCh37
NC_000001.9:g.225236696_225236698del	NCBI36
NG_012825.1:g.47136_47138del
NG_012825.2:g.89837_89839del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+223_853+225del MANE Select	ENSP00000355739.3:n.853+223_853+225del
ENST00000366779.6:c.*5580+223_*5580+225del	ENSP00000355741.2:n.*5580+223_*5580+225del
ENST00000676884.1:c.*5702+223_*5702+225del	ENSP00000503200.1:n.*5702+223_*5702+225del
ENST00000366777.3:c.853+223_853+225del	ENSP00000355739.3:n.853+223_853+225del
ENST00000366778.5:c.697+223_697+225del	ENSP00000355740.1:n.697+223_697+225del
ENST00000366779.5:c.853+223_853+225del	ENSP00000355741.1:n.853+223_853+225del
ENST00000478406.5:n.527_529del
ENST00000485462.5:n.243+223_243+225del
NM_020247.4:c.853+223_853+225del	NP_064632.2:n.853+223_853+225del
XM_005273201.1:c.853+223_853+225del	XP_005273258.1:n.853+223_853+225del
XM_011544238.1:c.853+223_853+225del	XP_011542540.1:n.853+223_853+225del
XM_011544239.1:c.853+223_853+225del	XP_011542541.1:n.853+223_853+225del
XM_011544240.1:c.853+223_853+225del	XP_011542542.1:n.853+223_853+225del
XM_011544241.1:c.853+223_853+225del	XP_011542543.1:n.853+223_853+225del
XM_011544239.2:c.853+223_853+225del	XP_011542541.1:n.853+223_853+225del
XM_011544241.2:c.853+223_853+225del	XP_011542543.1:n.853+223_853+225del
XM_017001852.1:c.853+223_853+225del	XP_016857341.1:n.853+223_853+225del
XM_024448517.1:c.853+223_853+225del	XP_024304285.1:n.853+223_853+225del
XM_024448518.1:c.853+223_853+225del	XP_024304286.1:n.853+223_853+225del
NM_020247.5:c.853+223_853+225del MANE Select	NP_064632.2:n.853+223_853+225del