Canonical Allele Identifier: CA2586968337

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226984879-GCT-G

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226984882_226984883del , CM000663.2:g.226984882_226984883del	GRCh38
NC_000001.10:g.227172583_227172584del , CM000663.1:g.227172583_227172584del	GRCh37
NC_000001.9:g.225239206_225239207del	NCBI36
NG_012825.1:g.49646_49647del
NG_012825.2:g.92347_92348del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.1513_1514del MANE Select	ENSP00000355739.3:p.Leu505PhefsTer10
ENST00000366779.6:c.*6240_*6241del	ENSP00000355741.2:n.*6240_*6241del
ENST00000366777.3:c.1513_1514del	ENSP00000355739.3:p.Leu505PhefsTer10
ENST00000366778.5:c.1357_1358del	ENSP00000355740.1:p.Leu453PhefsTer10
ENST00000366779.5:c.1513_1514del	ENSP00000355741.1:p.Leu505PhefsTer10
ENST00000478406.5:n.2375_2376del
ENST00000479852.1:n.700_701del
ENST00000485462.5:n.903_904del
NM_020247.4:c.1513_1514del	NP_064632.2:p.Leu505PhefsTer10
XM_005273201.1:c.1513_1514del	XP_005273258.1:p.Leu505PhefsTer10
XM_011544238.1:c.1513_1514del	XP_011542540.1:p.Leu505PhefsTer10
XM_011544239.1:c.1513_1514del	XP_011542541.1:p.Leu505PhefsTer10
XM_011544240.1:c.1513_1514del	XP_011542542.1:p.Leu505PhefsTer10
XM_011544241.1:c.1513_1514del	XP_011542543.1:p.Leu505PhefsTer10
XM_011544239.2:c.1513_1514del	XP_011542541.1:p.Leu505PhefsTer10
XM_011544241.2:c.1513_1514del	XP_011542543.1:p.Leu505PhefsTer10
XM_017001852.1:c.1513_1514del	XP_016857341.1:p.Leu505PhefsTer10
XM_024448517.1:c.1513_1514del	XP_024304285.1:p.Leu505PhefsTer10
XM_024448518.1:c.1513_1514del	XP_024304286.1:p.Leu505PhefsTer10
NM_020247.5:c.1513_1514del MANE Select	NP_064632.2:p.Leu505PhefsTer10