Canonical Allele Identifier: CA645293931
Gene: COQ8A HGNC NCBI

Linked Data

ClinVar Variation Id: 426203
ClinVar RCV Id: RCV000490170
dbSNP Id: rs1085307497
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226986608_226986609delinsC , CM000663.2:g.226986608_226986609delinsC GRCh38
NC_000001.10:g.227174309_227174310delinsC , CM000663.1:g.227174309_227174310delinsC GRCh37
NC_000001.9:g.225240932_225240933delinsC NCBI36
NG_012825.1:g.51372_51373delinsC
NG_012825.2:g.94073_94074delinsC

Transcript Alleles

HGVS Amino-acid change
ENST00000366777.4:c.1815_1816delinsC MANE Select ENSP00000355739.3:p.Glu605AspfsTer19
ENST00000366779.6:c.*6542_*6543delinsC ENSP00000355741.2:n.*6542_*6543delinsC
ENST00000366777.3:c.1815_1816delinsC ENSP00000355739.3:p.Glu605AspfsTer19
ENST00000366778.5:c.1659_1660delinsC ENSP00000355740.1:p.Glu553AspfsTer19
ENST00000366779.5:c.1815_1816delinsC ENSP00000355741.1:p.Glu605AspfsTer19
ENST00000478406.5:n.2677_2678delinsC
ENST00000479852.1:n.1002_1003delinsC
ENST00000485462.5:n.1205_1206delinsC
NM_020247.4:c.1815_1816delinsC NP_064632.2:p.Glu605AspfsTer19
XM_005273201.1:c.1815_1816delinsC XP_005273258.1:p.Glu605AspfsTer19
XM_011544238.1:c.1815_1816delinsC XP_011542540.1:p.Glu605AspfsTer19
XM_011544239.1:c.1815_1816delinsC XP_011542541.1:p.Glu605AspfsTer19
XM_011544240.1:c.1815_1816delinsC XP_011542542.1:p.Glu605AspfsTer19
XM_011544241.1:c.1815_1816delinsC XP_011542543.1:p.Glu605AspfsTer19
XM_011544239.2:c.1815_1816delinsC XP_011542541.1:p.Glu605AspfsTer19
XM_011544241.2:c.1815_1816delinsC XP_011542543.1:p.Glu605AspfsTer19
XM_017001852.1:c.1815_1816delinsC XP_016857341.1:p.Glu605AspfsTer19
XM_024448517.1:c.1815_1816delinsC XP_024304285.1:p.Glu605AspfsTer19
XM_024448518.1:c.1815_1816delinsC XP_024304286.1:p.Glu605AspfsTer19
NM_020247.5:c.1815_1816delinsC MANE Select NP_064632.2:p.Glu605AspfsTer19
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