Canonical Allele Identifier: CA2650793628

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983250-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983250_226983251insT , CM000663.2:g.226983250_226983251insT	GRCh38
NC_000001.10:g.227170951_227170952insT , CM000663.1:g.227170951_227170952insT	GRCh37
NC_000001.9:g.225237574_225237575insT	NCBI36
NG_012825.1:g.48014_48015insT
NG_012825.2:g.90715_90716insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1080+216_1080+217insT MANE Select	ENSP00000355739.3:n.1080+216_1080+217insT
ENST00000366779.6:c.*5807+216_*5807+217insT	ENSP00000355741.2:n.*5807+216_*5807+217insT
ENST00000676884.1:c.*5929+216_*5929+217insT	ENSP00000503200.1:n.*5929+216_*5929+217insT
ENST00000366777.3:c.1080+216_1080+217insT	ENSP00000355739.3:n.1080+216_1080+217insT
ENST00000366778.5:c.924+216_924+217insT	ENSP00000355740.1:n.924+216_924+217insT
ENST00000366779.5:c.1080+216_1080+217insT	ENSP00000355741.1:n.1080+216_1080+217insT
ENST00000478406.5:n.1275_1276insT
ENST00000479852.1:n.28+216_28+217insT
ENST00000485462.5:n.470+216_470+217insT
NM_020247.4:c.1080+216_1080+217insT	NP_064632.2:n.1080+216_1080+217insT
XM_005273201.1:c.1080+216_1080+217insT	XP_005273258.1:n.1080+216_1080+217insT
XM_011544238.1:c.1080+216_1080+217insT	XP_011542540.1:n.1080+216_1080+217insT
XM_011544239.1:c.1080+216_1080+217insT	XP_011542541.1:n.1080+216_1080+217insT
XM_011544240.1:c.1080+216_1080+217insT	XP_011542542.1:n.1080+216_1080+217insT
XM_011544241.1:c.1080+216_1080+217insT	XP_011542543.1:n.1080+216_1080+217insT
XM_011544239.2:c.1080+216_1080+217insT	XP_011542541.1:n.1080+216_1080+217insT
XM_011544241.2:c.1080+216_1080+217insT	XP_011542543.1:n.1080+216_1080+217insT
XM_017001852.1:c.1080+216_1080+217insT	XP_016857341.1:n.1080+216_1080+217insT
XM_024448517.1:c.1080+216_1080+217insT	XP_024304285.1:n.1080+216_1080+217insT
XM_024448518.1:c.1080+216_1080+217insT	XP_024304286.1:n.1080+216_1080+217insT
NM_020247.5:c.1080+216_1080+217insT MANE Select	NP_064632.2:n.1080+216_1080+217insT