Canonical Allele Identifier: CA1145049613

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982195_226982201delinsGGGGGGG , CM000663.2:g.226982195_226982201delinsGGGGGGG	GRCh38
NC_000001.10:g.227169896_227169902delinsGGGGGGG , CM000663.1:g.227169896_227169902delinsGGGGGGG	GRCh37
NC_000001.9:g.225236519_225236525delinsGGGGGGG	NCBI36
NG_012825.1:g.46959_46965delinsGGGGGGG
NG_012825.2:g.89660_89666delinsGGGGGGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+46_853+52delinsGGGGGGG MANE Select	ENSP00000355739.3:n.853+46_853+52delinsGGGGGGG
ENST00000366779.6:c.*5580+46_*5580+52delinsGGGGGGG	ENSP00000355741.2:n.*5580+46_*5580+52delinsGGGGGGG
ENST00000676884.1:c.*5702+46_*5702+52delinsGGGGGGG	ENSP00000503200.1:n.*5702+46_*5702+52delinsGGGGGGG
ENST00000366777.3:c.853+46_853+52delinsGGGGGGG	ENSP00000355739.3:n.853+46_853+52delinsGGGGGGG
ENST00000366778.5:c.697+46_697+52delinsGGGGGGG	ENSP00000355740.1:n.697+46_697+52delinsGGGGGGG
ENST00000366779.5:c.853+46_853+52delinsGGGGGGG	ENSP00000355741.1:n.853+46_853+52delinsGGGGGGG
ENST00000478406.5:n.350_356delinsGGGGGGG
ENST00000485462.5:n.243+46_243+52delinsGGGGGGG
NM_020247.4:c.853+46_853+52delinsGGGGGGG	NP_064632.2:n.853+46_853+52delinsGGGGGGG
XM_005273201.1:c.853+46_853+52delinsGGGGGGG	XP_005273258.1:n.853+46_853+52delinsGGGGGGG
XM_011544238.1:c.853+46_853+52delinsGGGGGGG	XP_011542540.1:n.853+46_853+52delinsGGGGGGG
XM_011544239.1:c.853+46_853+52delinsGGGGGGG	XP_011542541.1:n.853+46_853+52delinsGGGGGGG
XM_011544240.1:c.853+46_853+52delinsGGGGGGG	XP_011542542.1:n.853+46_853+52delinsGGGGGGG
XM_011544241.1:c.853+46_853+52delinsGGGGGGG	XP_011542543.1:n.853+46_853+52delinsGGGGGGG
XM_011544239.2:c.853+46_853+52delinsGGGGGGG	XP_011542541.1:n.853+46_853+52delinsGGGGGGG
XM_011544241.2:c.853+46_853+52delinsGGGGGGG	XP_011542543.1:n.853+46_853+52delinsGGGGGGG
XM_017001852.1:c.853+46_853+52delinsGGGGGGG	XP_016857341.1:n.853+46_853+52delinsGGGGGGG
XM_024448517.1:c.853+46_853+52delinsGGGGGGG	XP_024304285.1:n.853+46_853+52delinsGGGGGGG
XM_024448518.1:c.853+46_853+52delinsGGGGGGG	XP_024304286.1:n.853+46_853+52delinsGGGGGGG
NM_020247.5:c.853+46_853+52delinsGGGGGGG MANE Select	NP_064632.2:n.853+46_853+52delinsGGGGGGG