Canonical Allele Identifier: CA1225123809

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983548_226983551delinsACAG , CM000663.2:g.226983548_226983551delinsACAG	GRCh38
NC_000001.10:g.227171249_227171252delinsACAG , CM000663.1:g.227171249_227171252delinsACAG	GRCh37
NC_000001.9:g.225237872_225237875delinsACAG	NCBI36
NG_012825.1:g.48312_48315delinsACAG
NG_012825.2:g.91013_91016delinsACAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1081-4_1081-1delinsACAG MANE Select	ENSP00000355739.3:n.1081-4_1081-1delinsACAG
ENST00000366779.6:c.*5808-4_*5808-1delinsACAG	ENSP00000355741.2:n.*5808-4_*5808-1delinsACAG
ENST00000676884.1:c.*5930-4_*5930-1delinsACAG	ENSP00000503200.1:n.*5930-4_*5930-1delinsACAG
ENST00000366777.3:c.1081-4_1081-1delinsACAG	ENSP00000355739.3:n.1081-4_1081-1delinsACAG
ENST00000366778.5:c.925-4_925-1delinsACAG	ENSP00000355740.1:n.925-4_925-1delinsACAG
ENST00000366779.5:c.1081-4_1081-1delinsACAG	ENSP00000355741.1:n.1081-4_1081-1delinsACAG
ENST00000478406.5:n.1573_1576delinsACAG
ENST00000479852.1:n.29-4_29-1delinsACAG
ENST00000485462.5:n.471-4_471-1delinsACAG
NM_020247.4:c.1081-4_1081-1delinsACAG	NP_064632.2:n.1081-4_1081-1delinsACAG
XM_005273201.1:c.1081-4_1081-1delinsACAG	XP_005273258.1:n.1081-4_1081-1delinsACAG
XM_011544238.1:c.1081-4_1081-1delinsACAG	XP_011542540.1:n.1081-4_1081-1delinsACAG
XM_011544239.1:c.1081-4_1081-1delinsACAG	XP_011542541.1:n.1081-4_1081-1delinsACAG
XM_011544240.1:c.1081-4_1081-1delinsACAG	XP_011542542.1:n.1081-4_1081-1delinsACAG
XM_011544241.1:c.1081-4_1081-1delinsACAG	XP_011542543.1:n.1081-4_1081-1delinsACAG
XM_011544239.2:c.1081-4_1081-1delinsACAG	XP_011542541.1:n.1081-4_1081-1delinsACAG
XM_011544241.2:c.1081-4_1081-1delinsACAG	XP_011542543.1:n.1081-4_1081-1delinsACAG
XM_017001852.1:c.1081-4_1081-1delinsACAG	XP_016857341.1:n.1081-4_1081-1delinsACAG
XM_024448517.1:c.1081-4_1081-1delinsACAG	XP_024304285.1:n.1081-4_1081-1delinsACAG
XM_024448518.1:c.1081-4_1081-1delinsACAG	XP_024304286.1:n.1081-4_1081-1delinsACAG
NM_020247.5:c.1081-4_1081-1delinsACAG MANE Select	NP_064632.2:n.1081-4_1081-1delinsACAG