Canonical Allele Identifier: CA1225123713

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983357_226983360delinsCAGG , CM000663.2:g.226983357_226983360delinsCAGG	GRCh38
NC_000001.10:g.227171058_227171061delinsCAGG , CM000663.1:g.227171058_227171061delinsCAGG	GRCh37
NC_000001.9:g.225237681_225237684delinsCAGG	NCBI36
NG_012825.1:g.48121_48124delinsCAGG
NG_012825.2:g.90822_90825delinsCAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1081-195_1081-192delinsCAGG MANE Select	ENSP00000355739.3:n.1081-195_1081-192delinsCAGG
ENST00000366779.6:c.*5808-195_*5808-192delinsCAGG	ENSP00000355741.2:n.*5808-195_*5808-192delinsCAGG
ENST00000676884.1:c.*5930-195_*5930-192delinsCAGG	ENSP00000503200.1:n.*5930-195_*5930-192delinsCAGG
ENST00000366777.3:c.1081-195_1081-192delinsCAGG	ENSP00000355739.3:n.1081-195_1081-192delinsCAGG
ENST00000366778.5:c.925-195_925-192delinsCAGG	ENSP00000355740.1:n.925-195_925-192delinsCAGG
ENST00000366779.5:c.1081-195_1081-192delinsCAGG	ENSP00000355741.1:n.1081-195_1081-192delinsCAGG
ENST00000478406.5:n.1382_1385delinsCAGG
ENST00000479852.1:n.29-195_29-192delinsCAGG
ENST00000485462.5:n.471-195_471-192delinsCAGG
NM_020247.4:c.1081-195_1081-192delinsCAGG	NP_064632.2:n.1081-195_1081-192delinsCAGG
XM_005273201.1:c.1081-195_1081-192delinsCAGG	XP_005273258.1:n.1081-195_1081-192delinsCAGG
XM_011544238.1:c.1081-195_1081-192delinsCAGG	XP_011542540.1:n.1081-195_1081-192delinsCAGG
XM_011544239.1:c.1081-195_1081-192delinsCAGG	XP_011542541.1:n.1081-195_1081-192delinsCAGG
XM_011544240.1:c.1081-195_1081-192delinsCAGG	XP_011542542.1:n.1081-195_1081-192delinsCAGG
XM_011544241.1:c.1081-195_1081-192delinsCAGG	XP_011542543.1:n.1081-195_1081-192delinsCAGG
XM_011544239.2:c.1081-195_1081-192delinsCAGG	XP_011542541.1:n.1081-195_1081-192delinsCAGG
XM_011544241.2:c.1081-195_1081-192delinsCAGG	XP_011542543.1:n.1081-195_1081-192delinsCAGG
XM_017001852.1:c.1081-195_1081-192delinsCAGG	XP_016857341.1:n.1081-195_1081-192delinsCAGG
XM_024448517.1:c.1081-195_1081-192delinsCAGG	XP_024304285.1:n.1081-195_1081-192delinsCAGG
XM_024448518.1:c.1081-195_1081-192delinsCAGG	XP_024304286.1:n.1081-195_1081-192delinsCAGG
NM_020247.5:c.1081-195_1081-192delinsCAGG MANE Select	NP_064632.2:n.1081-195_1081-192delinsCAGG