Canonical Allele Identifier: CA2650794202

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983860-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983865del , CM000663.2:g.226983865del	GRCh38
NC_000001.10:g.227171566del , CM000663.1:g.227171566del	GRCh37
NC_000001.9:g.225238189del	NCBI36
NG_012825.1:g.48629del
NG_012825.2:g.91330del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+11del MANE Select	ENSP00000355739.3:n.1256+11del
ENST00000366779.6:c.*5983+11del	ENSP00000355741.2:n.*5983+11del
ENST00000366777.3:c.1256+11del	ENSP00000355739.3:n.1256+11del
ENST00000366778.5:c.1100+11del	ENSP00000355740.1:n.1100+11del
ENST00000366779.5:c.1256+11del	ENSP00000355741.1:n.1256+11del
ENST00000478406.5:n.1890del
ENST00000479852.1:n.215del
ENST00000485462.5:n.646+11del
NM_020247.4:c.1256+11del	NP_064632.2:n.1256+11del
XM_005273201.1:c.1256+11del	XP_005273258.1:n.1256+11del
XM_011544238.1:c.1256+11del	XP_011542540.1:n.1256+11del
XM_011544239.1:c.1256+11del	XP_011542541.1:n.1256+11del
XM_011544240.1:c.1256+11del	XP_011542542.1:n.1256+11del
XM_011544241.1:c.1256+11del	XP_011542543.1:n.1256+11del
XM_011544239.2:c.1256+11del	XP_011542541.1:n.1256+11del
XM_011544241.2:c.1256+11del	XP_011542543.1:n.1256+11del
XM_017001852.1:c.1256+11del	XP_016857341.1:n.1256+11del
XM_024448517.1:c.1256+11del	XP_024304285.1:n.1256+11del
XM_024448518.1:c.1256+11del	XP_024304286.1:n.1256+11del
NM_020247.5:c.1256+11del MANE Select	NP_064632.2:n.1256+11del