Canonical Allele Identifier: CA2650793398

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983045-T-TATAGGCTTTCAG

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983045_226983046insATAGGCTTTCAG , CM000663.2:g.226983045_226983046insATAGGCTTTCAG	GRCh38
NC_000001.10:g.227170746_227170747insATAGGCTTTCAG , CM000663.1:g.227170746_227170747insATAGGCTTTCAG	GRCh37
NC_000001.9:g.225237369_225237370insATAGGCTTTCAG	NCBI36
NG_012825.1:g.47809_47810insATAGGCTTTCAG
NG_012825.2:g.90510_90511insATAGGCTTTCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+11_1080+12insATAGGCTTTCAG MANE Select	ENSP00000355739.3:n.1080+11_1080+12insATAGGCTTTCAG
ENST00000366779.6:c.*5807+11_*5807+12insATAGGCTTTCAG	ENSP00000355741.2:n.*5807+11_*5807+12insATAGGCTTTCAG
ENST00000676884.1:c.*5929+11_*5929+12insATAGGCTTTCAG	ENSP00000503200.1:n.*5929+11_*5929+12insATAGGCTTTCAG
ENST00000366777.3:c.1080+11_1080+12insATAGGCTTTCAG	ENSP00000355739.3:n.1080+11_1080+12insATAGGCTTTCAG
ENST00000366778.5:c.924+11_924+12insATAGGCTTTCAG	ENSP00000355740.1:n.924+11_924+12insATAGGCTTTCAG
ENST00000366779.5:c.1080+11_1080+12insATAGGCTTTCAG	ENSP00000355741.1:n.1080+11_1080+12insATAGGCTTTCAG
ENST00000478406.5:n.1070_1071insATAGGCTTTCAG
ENST00000479852.1:n.28+11_28+12insATAGGCTTTCAG
ENST00000485462.5:n.470+11_470+12insATAGGCTTTCAG
NM_020247.4:c.1080+11_1080+12insATAGGCTTTCAG	NP_064632.2:n.1080+11_1080+12insATAGGCTTTCAG
XM_005273201.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_005273258.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_011544238.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_011542540.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_011544239.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_011542541.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_011544240.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_011542542.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_011544241.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_011542543.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_011544239.2:c.1080+11_1080+12insATAGGCTTTCAG	XP_011542541.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_011544241.2:c.1080+11_1080+12insATAGGCTTTCAG	XP_011542543.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_017001852.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_016857341.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_024448517.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_024304285.1:n.1080+11_1080+12insATAGGCTTTCAG
XM_024448518.1:c.1080+11_1080+12insATAGGCTTTCAG	XP_024304286.1:n.1080+11_1080+12insATAGGCTTTCAG
NM_020247.5:c.1080+11_1080+12insATAGGCTTTCAG MANE Select	NP_064632.2:n.1080+11_1080+12insATAGGCTTTCAG