Canonical Allele Identifier: CA1225123960

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983862_226983872delinsCCCCGGCCGGG , CM000663.2:g.226983862_226983872delinsCCCCGGCCGGG	GRCh38
NC_000001.10:g.227171563_227171573delinsCCCCGGCCGGG , CM000663.1:g.227171563_227171573delinsCCCCGGCCGGG	GRCh37
NC_000001.9:g.225238186_225238196delinsCCCCGGCCGGG	NCBI36
NG_012825.1:g.48626_48636delinsCCCCGGCCGGG
NG_012825.2:g.91327_91337delinsCCCCGGCCGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1256+8_1256+18delinsCCCCGGCCGGG MANE Select	ENSP00000355739.3:n.1256+8_1256+18delinsCCCCGGCCGGG
ENST00000366779.6:c.*5983+8_*5983+18delinsCCCCGGCCGGG	ENSP00000355741.2:n.*5983+8_*5983+18delinsCCCCGGCCGGG
ENST00000366777.3:c.1256+8_1256+18delinsCCCCGGCCGGG	ENSP00000355739.3:n.1256+8_1256+18delinsCCCCGGCCGGG
ENST00000366778.5:c.1100+8_1100+18delinsCCCCGGCCGGG	ENSP00000355740.1:n.1100+8_1100+18delinsCCCCGGCCGGG
ENST00000366779.5:c.1256+8_1256+18delinsCCCCGGCCGGG	ENSP00000355741.1:n.1256+8_1256+18delinsCCCCGGCCGGG
ENST00000478406.5:n.1887_1897delinsCCCCGGCCGGG
ENST00000479852.1:n.212_222delinsCCCCGGCCGGG
ENST00000485462.5:n.646+8_646+18delinsCCCCGGCCGGG
NM_020247.4:c.1256+8_1256+18delinsCCCCGGCCGGG	NP_064632.2:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_005273201.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_005273258.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_011544238.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_011542540.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_011544239.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_011542541.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_011544240.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_011542542.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_011544241.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_011542543.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_011544239.2:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_011542541.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_011544241.2:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_011542543.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_017001852.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_016857341.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_024448517.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_024304285.1:n.1256+8_1256+18delinsCCCCGGCCGGG
XM_024448518.1:c.1256+8_1256+18delinsCCCCGGCCGGG	XP_024304286.1:n.1256+8_1256+18delinsCCCCGGCCGGG
NM_020247.5:c.1256+8_1256+18delinsCCCCGGCCGGG MANE Select	NP_064632.2:n.1256+8_1256+18delinsCCCCGGCCGGG