Canonical Allele Identifier: CA916419447

Gene: COQ8A

Linked Data

• dbSNP Id: rs1558205943

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982758_226982763del , CM000663.2:g.226982758_226982763del	GRCh38
NC_000001.10:g.227170459_227170464del , CM000663.1:g.227170459_227170464del	GRCh37
NC_000001.9:g.225237082_225237087del	NCBI36
NG_012825.1:g.47522_47527del
NG_012825.2:g.90223_90228del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.934_939del MANE Select	ENSP00000355739.3:p.Met312_Met313del
ENST00000366779.6:c.*5661_*5666del	ENSP00000355741.2:n.*5661_*5666del
ENST00000676884.1:c.*5783_*5788del	ENSP00000503200.1:n.*5783_*5788del
ENST00000366777.3:c.934_939del	ENSP00000355739.3:p.Met312_Met313del
ENST00000366778.5:c.778_783del	ENSP00000355740.1:p.Met260_Met261del
ENST00000366779.5:c.934_939del	ENSP00000355741.1:p.Met312_Met313del
ENST00000478406.5:n.913_918del
ENST00000485462.5:n.324_329del
NM_020247.4:c.934_939del	NP_064632.2:p.Met312_Met313del
XM_005273201.1:c.934_939del	XP_005273258.1:p.Met312_Met313del
XM_011544238.1:c.934_939del	XP_011542540.1:p.Met312_Met313del
XM_011544239.1:c.934_939del	XP_011542541.1:p.Met312_Met313del
XM_011544240.1:c.934_939del	XP_011542542.1:p.Met312_Met313del
XM_011544241.1:c.934_939del	XP_011542543.1:p.Met312_Met313del
XM_011544239.2:c.934_939del	XP_011542541.1:p.Met312_Met313del
XM_011544241.2:c.934_939del	XP_011542543.1:p.Met312_Met313del
XM_017001852.1:c.934_939del	XP_016857341.1:p.Met312_Met313del
XM_024448517.1:c.934_939del	XP_024304285.1:p.Met312_Met313del
XM_024448518.1:c.934_939del	XP_024304286.1:p.Met312_Met313del
NM_020247.5:c.934_939del MANE Select	NP_064632.2:p.Met312_Met313del