Canonical Allele Identifier: CA2650793909

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226983467-GCCAGTTGGGGGTTGGGGGAGTGCC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226983472_226983495del , CM000663.2:g.226983472_226983495del	GRCh38
NC_000001.10:g.227171173_227171196del , CM000663.1:g.227171173_227171196del	GRCh37
NC_000001.9:g.225237796_225237819del	NCBI36
NG_012825.1:g.48236_48259del
NG_012825.2:g.90937_90960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1081-80_1081-57del MANE Select	ENSP00000355739.3:n.1081-80_1081-57del
ENST00000366779.6:c.*5808-80_*5808-57del	ENSP00000355741.2:n.*5808-80_*5808-57del
ENST00000676884.1:c.*5930-80_*5930-57del	ENSP00000503200.1:n.*5930-80_*5930-57del
ENST00000366777.3:c.1081-80_1081-57del	ENSP00000355739.3:n.1081-80_1081-57del
ENST00000366778.5:c.925-80_925-57del	ENSP00000355740.1:n.925-80_925-57del
ENST00000366779.5:c.1081-80_1081-57del	ENSP00000355741.1:n.1081-80_1081-57del
ENST00000478406.5:n.1497_1520del
ENST00000479852.1:n.29-80_29-57del
ENST00000485462.5:n.471-80_471-57del
NM_020247.4:c.1081-80_1081-57del	NP_064632.2:n.1081-80_1081-57del
XM_005273201.1:c.1081-80_1081-57del	XP_005273258.1:n.1081-80_1081-57del
XM_011544238.1:c.1081-80_1081-57del	XP_011542540.1:n.1081-80_1081-57del
XM_011544239.1:c.1081-80_1081-57del	XP_011542541.1:n.1081-80_1081-57del
XM_011544240.1:c.1081-80_1081-57del	XP_011542542.1:n.1081-80_1081-57del
XM_011544241.1:c.1081-80_1081-57del	XP_011542543.1:n.1081-80_1081-57del
XM_011544239.2:c.1081-80_1081-57del	XP_011542541.1:n.1081-80_1081-57del
XM_011544241.2:c.1081-80_1081-57del	XP_011542543.1:n.1081-80_1081-57del
XM_017001852.1:c.1081-80_1081-57del	XP_016857341.1:n.1081-80_1081-57del
XM_024448517.1:c.1081-80_1081-57del	XP_024304285.1:n.1081-80_1081-57del
XM_024448518.1:c.1081-80_1081-57del	XP_024304286.1:n.1081-80_1081-57del
NM_020247.5:c.1081-80_1081-57del MANE Select	NP_064632.2:n.1081-80_1081-57del