Canonical Allele Identifier: CA1225125417

Gene: COQ8A

Linked Data

• dbSNP Id: rs730882239

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.226986537_226986538insTACGG , CM000663.2:g.226986537_226986538insTACGG	GRCh38
NC_000001.10:g.227174238_227174239insTACGG , CM000663.1:g.227174238_227174239insTACGG	GRCh37
NC_000001.9:g.225240861_225240862insTACGG	NCBI36
NG_012825.1:g.51301_51302insTACGG
NG_012825.2:g.94002_94003insTACGG

Transcript Alleles

HGVS	Amino-acid change
ENST00000366777.4:c.1744_1745insTACGG MANE Select	ENSP00000355739.3:p.Ser582IlefsTer11
ENST00000366779.6:c.*6471_*6472insTACGG	ENSP00000355741.2:n.*6471_*6472insTACGG
ENST00000366777.3:c.1744_1745insTACGG	ENSP00000355739.3:p.Ser582IlefsTer11
ENST00000366778.5:c.1588_1589insTACGG	ENSP00000355740.1:p.Ser530IlefsTer11
ENST00000366779.5:c.1744_1745insTACGG	ENSP00000355741.1:p.Ser582IlefsTer11
ENST00000478406.5:n.2606_2607insTACGG
ENST00000479852.1:n.931_932insTACGG
ENST00000485462.5:n.1134_1135insTACGG
NM_020247.4:c.1744_1745insTACGG	NP_064632.2:p.Ser582IlefsTer11
XM_005273201.1:c.1744_1745insTACGG	XP_005273258.1:p.Ser582IlefsTer11
XM_011544238.1:c.1744_1745insTACGG	XP_011542540.1:p.Ser582IlefsTer11
XM_011544239.1:c.1744_1745insTACGG	XP_011542541.1:p.Ser582IlefsTer11
XM_011544240.1:c.1744_1745insTACGG	XP_011542542.1:p.Ser582IlefsTer11
XM_011544241.1:c.1744_1745insTACGG	XP_011542543.1:p.Ser582IlefsTer11
XM_011544239.2:c.1744_1745insTACGG	XP_011542541.1:p.Ser582IlefsTer11
XM_011544241.2:c.1744_1745insTACGG	XP_011542543.1:p.Ser582IlefsTer11
XM_017001852.1:c.1744_1745insTACGG	XP_016857341.1:p.Ser582IlefsTer11
XM_024448517.1:c.1744_1745insTACGG	XP_024304285.1:p.Ser582IlefsTer11
XM_024448518.1:c.1744_1745insTACGG	XP_024304286.1:p.Ser582IlefsTer11
NM_020247.5:c.1744_1745insTACGG MANE Select	NP_064632.2:p.Ser582IlefsTer11