Canonical Allele Identifier: CA2650793384

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983022-CATGAAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983025_226983030del , CM000663.2:g.226983025_226983030del	GRCh38
NC_000001.10:g.227170726_227170731del , CM000663.1:g.227170726_227170731del	GRCh37
NC_000001.9:g.225237349_225237354del	NCBI36
NG_012825.1:g.47789_47794del
NG_012825.2:g.90490_90495del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1071_1076del MANE Select	ENSP00000355739.3:p.Met357_Lys358del
ENST00000366779.6:c.*5798_*5803del	ENSP00000355741.2:n.*5798_*5803del
ENST00000676884.1:c.*5920_*5925del	ENSP00000503200.1:n.*5920_*5925del
ENST00000366777.3:c.1071_1076del	ENSP00000355739.3:p.Met357_Lys358del
ENST00000366778.5:c.915_920del	ENSP00000355740.1:p.Met305_Lys306del
ENST00000366779.5:c.1071_1076del	ENSP00000355741.1:p.Met357_Lys358del
ENST00000478406.5:n.1050_1055del
ENST00000479852.1:n.19_24del
ENST00000485462.5:n.461_466del
NM_020247.4:c.1071_1076del	NP_064632.2:p.Met357_Lys358del
XM_005273201.1:c.1071_1076del	XP_005273258.1:p.Met357_Lys358del
XM_011544238.1:c.1071_1076del	XP_011542540.1:p.Met357_Lys358del
XM_011544239.1:c.1071_1076del	XP_011542541.1:p.Met357_Lys358del
XM_011544240.1:c.1071_1076del	XP_011542542.1:p.Met357_Lys358del
XM_011544241.1:c.1071_1076del	XP_011542543.1:p.Met357_Lys358del
XM_011544239.2:c.1071_1076del	XP_011542541.1:p.Met357_Lys358del
XM_011544241.2:c.1071_1076del	XP_011542543.1:p.Met357_Lys358del
XM_017001852.1:c.1071_1076del	XP_016857341.1:p.Met357_Lys358del
XM_024448517.1:c.1071_1076del	XP_024304285.1:p.Met357_Lys358del
XM_024448518.1:c.1071_1076del	XP_024304286.1:p.Met357_Lys358del
NM_020247.5:c.1071_1076del MANE Select	NP_064632.2:p.Met357_Lys358del