Canonical Allele Identifier: CA1225123143

Gene: COQ8A

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982155_226982163delinsTGGGCGCGG , CM000663.2:g.226982155_226982163delinsTGGGCGCGG	GRCh38
NC_000001.10:g.227169856_227169864delinsTGGGCGCGG , CM000663.1:g.227169856_227169864delinsTGGGCGCGG	GRCh37
NC_000001.9:g.225236479_225236487delinsTGGGCGCGG	NCBI36
NG_012825.1:g.46919_46927delinsTGGGCGCGG
NG_012825.2:g.89620_89628delinsTGGGCGCGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.853+6_853+14delinsTGGGCGCGG MANE Select	ENSP00000355739.3:n.853+6_853+14delinsTGGGCGCGG
ENST00000366779.6:c.*5580+6_*5580+14delinsTGGGCGCGG	ENSP00000355741.2:n.*5580+6_*5580+14delinsTGGGCGCGG
ENST00000676884.1:c.*5702+6_*5702+14delinsTGGGCGCGG	ENSP00000503200.1:n.*5702+6_*5702+14delinsTGGGCGCGG
ENST00000366777.3:c.853+6_853+14delinsTGGGCGCGG	ENSP00000355739.3:n.853+6_853+14delinsTGGGCGCGG
ENST00000366778.5:c.697+6_697+14delinsTGGGCGCGG	ENSP00000355740.1:n.697+6_697+14delinsTGGGCGCGG
ENST00000366779.5:c.853+6_853+14delinsTGGGCGCGG	ENSP00000355741.1:n.853+6_853+14delinsTGGGCGCGG
ENST00000478406.5:n.310_318delinsTGGGCGCGG
ENST00000485462.5:n.243+6_243+14delinsTGGGCGCGG
NM_020247.4:c.853+6_853+14delinsTGGGCGCGG	NP_064632.2:n.853+6_853+14delinsTGGGCGCGG
XM_005273201.1:c.853+6_853+14delinsTGGGCGCGG	XP_005273258.1:n.853+6_853+14delinsTGGGCGCGG
XM_011544238.1:c.853+6_853+14delinsTGGGCGCGG	XP_011542540.1:n.853+6_853+14delinsTGGGCGCGG
XM_011544239.1:c.853+6_853+14delinsTGGGCGCGG	XP_011542541.1:n.853+6_853+14delinsTGGGCGCGG
XM_011544240.1:c.853+6_853+14delinsTGGGCGCGG	XP_011542542.1:n.853+6_853+14delinsTGGGCGCGG
XM_011544241.1:c.853+6_853+14delinsTGGGCGCGG	XP_011542543.1:n.853+6_853+14delinsTGGGCGCGG
XM_011544239.2:c.853+6_853+14delinsTGGGCGCGG	XP_011542541.1:n.853+6_853+14delinsTGGGCGCGG
XM_011544241.2:c.853+6_853+14delinsTGGGCGCGG	XP_011542543.1:n.853+6_853+14delinsTGGGCGCGG
XM_017001852.1:c.853+6_853+14delinsTGGGCGCGG	XP_016857341.1:n.853+6_853+14delinsTGGGCGCGG
XM_024448517.1:c.853+6_853+14delinsTGGGCGCGG	XP_024304285.1:n.853+6_853+14delinsTGGGCGCGG
XM_024448518.1:c.853+6_853+14delinsTGGGCGCGG	XP_024304286.1:n.853+6_853+14delinsTGGGCGCGG
NM_020247.5:c.853+6_853+14delinsTGGGCGCGG MANE Select	NP_064632.2:n.853+6_853+14delinsTGGGCGCGG