Canonical Allele Identifier: CA2650793722

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983313-TGGTGGGAGGGTGGCCGTGAGCTGTTCCCAGGGGTGAGGTGAGGCAGGAGTA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983319_226983369del , CM000663.2:g.226983319_226983369del	GRCh38
NC_000001.10:g.227171020_227171070del , CM000663.1:g.227171020_227171070del	GRCh37
NC_000001.9:g.225237643_225237693del	NCBI36
NG_012825.1:g.48083_48133del
NG_012825.2:g.90784_90834del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1081-233_1081-183del MANE Select	ENSP00000355739.3:n.1081-233_1081-183del
ENST00000366779.6:c.*5808-233_*5808-183del	ENSP00000355741.2:n.*5808-233_*5808-183del
ENST00000676884.1:c.*5930-233_*5930-183del	ENSP00000503200.1:n.*5930-233_*5930-183del
ENST00000366777.3:c.1081-233_1081-183del	ENSP00000355739.3:n.1081-233_1081-183del
ENST00000366778.5:c.925-233_925-183del	ENSP00000355740.1:n.925-233_925-183del
ENST00000366779.5:c.1081-233_1081-183del	ENSP00000355741.1:n.1081-233_1081-183del
ENST00000478406.5:n.1344_1394del
ENST00000479852.1:n.29-233_29-183del
ENST00000485462.5:n.471-233_471-183del
NM_020247.4:c.1081-233_1081-183del	NP_064632.2:n.1081-233_1081-183del
XM_005273201.1:c.1081-233_1081-183del	XP_005273258.1:n.1081-233_1081-183del
XM_011544238.1:c.1081-233_1081-183del	XP_011542540.1:n.1081-233_1081-183del
XM_011544239.1:c.1081-233_1081-183del	XP_011542541.1:n.1081-233_1081-183del
XM_011544240.1:c.1081-233_1081-183del	XP_011542542.1:n.1081-233_1081-183del
XM_011544241.1:c.1081-233_1081-183del	XP_011542543.1:n.1081-233_1081-183del
XM_011544239.2:c.1081-233_1081-183del	XP_011542541.1:n.1081-233_1081-183del
XM_011544241.2:c.1081-233_1081-183del	XP_011542543.1:n.1081-233_1081-183del
XM_017001852.1:c.1081-233_1081-183del	XP_016857341.1:n.1081-233_1081-183del
XM_024448517.1:c.1081-233_1081-183del	XP_024304285.1:n.1081-233_1081-183del
XM_024448518.1:c.1081-233_1081-183del	XP_024304286.1:n.1081-233_1081-183del
NM_020247.5:c.1081-233_1081-183del MANE Select	NP_064632.2:n.1081-233_1081-183del