Canonical Allele Identifier: CA2650793377

Gene: COQ8A

Linked Data

• gnomAD v4: 1-226982909-G-GAC

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226982910_226982911dup , CM000663.2:g.226982910_226982911dup	GRCh38
NC_000001.10:g.227170611_227170612dup , CM000663.1:g.227170611_227170612dup	GRCh37
NC_000001.9:g.225237234_225237235dup	NCBI36
NG_012825.1:g.47674_47675dup
NG_012825.2:g.90375_90376dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000366777.4:c.956_957dup MANE Select	ENSP00000355739.3:p.Leu320ThrfsTer?
ENST00000366779.6:c.*5683_*5684dup	ENSP00000355741.2:n.*5683_*5684dup
ENST00000676884.1:c.*5805_*5806dup	ENSP00000503200.1:n.*5805_*5806dup
ENST00000366777.3:c.956_957dup	ENSP00000355739.3:p.Leu320ThrfsTer?
ENST00000366778.5:c.800_801dup	ENSP00000355740.1:p.Leu268ThrfsTer?
ENST00000366779.5:c.956_957dup	ENSP00000355741.1:p.Leu320ThrfsTer?
ENST00000478406.5:n.935_936dup
ENST00000485462.5:n.346_347dup
NM_020247.4:c.956_957dup	NP_064632.2:p.Leu320ThrfsTer?
XM_005273201.1:c.956_957dup	XP_005273258.1:p.Leu320ThrfsTer?
XM_011544238.1:c.956_957dup	XP_011542540.1:p.Leu320ThrfsTer?
XM_011544239.1:c.956_957dup	XP_011542541.1:p.Leu320ThrfsTer?
XM_011544240.1:c.956_957dup	XP_011542542.1:p.Leu320ThrfsTer?
XM_011544241.1:c.956_957dup	XP_011542543.1:p.Leu320ThrfsTer?
XM_011544239.2:c.956_957dup	XP_011542541.1:p.Leu320ThrfsTer?
XM_011544241.2:c.956_957dup	XP_011542543.1:p.Leu320ThrfsTer?
XM_017001852.1:c.956_957dup	XP_016857341.1:p.Leu320ThrfsTer?
XM_024448517.1:c.956_957dup	XP_024304285.1:p.Leu320ThrfsTer?
XM_024448518.1:c.956_957dup	XP_024304286.1:p.Leu320ThrfsTer?
NM_020247.5:c.956_957dup MANE Select	NP_064632.2:p.Leu320ThrfsTer?