Canonical Allele Identifier: CA2650793381

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982974-CATTGGGCAGGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982975_226982985del , CM000663.2:g.226982975_226982985del	GRCh38
NC_000001.10:g.227170676_227170686del , CM000663.1:g.227170676_227170686del	GRCh37
NC_000001.9:g.225237299_225237309del	NCBI36
NG_012825.1:g.47739_47749del
NG_012825.2:g.90440_90450del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1021_1031del MANE Select	ENSP00000355739.3:p.Ile341AlafsTer27
ENST00000366779.6:c.*5748_*5758del	ENSP00000355741.2:n.*5748_*5758del
ENST00000676884.1:c.*5870_*5880del	ENSP00000503200.1:n.*5870_*5880del
ENST00000366777.3:c.1021_1031del	ENSP00000355739.3:p.Ile341AlafsTer27
ENST00000366778.5:c.865_875del	ENSP00000355740.1:p.Ile289AlafsTer27
ENST00000366779.5:c.1021_1031del	ENSP00000355741.1:p.Ile341AlafsTer27
ENST00000478406.5:n.1000_1010del
ENST00000485462.5:n.411_421del
NM_020247.4:c.1021_1031del	NP_064632.2:p.Ile341AlafsTer27
XM_005273201.1:c.1021_1031del	XP_005273258.1:p.Ile341AlafsTer27
XM_011544238.1:c.1021_1031del	XP_011542540.1:p.Ile341AlafsTer27
XM_011544239.1:c.1021_1031del	XP_011542541.1:p.Ile341AlafsTer27
XM_011544240.1:c.1021_1031del	XP_011542542.1:p.Ile341AlafsTer27
XM_011544241.1:c.1021_1031del	XP_011542543.1:p.Ile341AlafsTer27
XM_011544239.2:c.1021_1031del	XP_011542541.1:p.Ile341AlafsTer27
XM_011544241.2:c.1021_1031del	XP_011542543.1:p.Ile341AlafsTer27
XM_017001852.1:c.1021_1031del	XP_016857341.1:p.Ile341AlafsTer27
XM_024448517.1:c.1021_1031del	XP_024304285.1:p.Ile341AlafsTer27
XM_024448518.1:c.1021_1031del	XP_024304286.1:p.Ile341AlafsTer27
NM_020247.5:c.1021_1031del MANE Select	NP_064632.2:p.Ile341AlafsTer27