Canonical Allele Identifier: CA1425530
Gene: COQ8A HGNC NCBI

Linked Data

dbSNP Id: rs763587626

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984906del , CM000663.2:g.226984906del GRCh38
NC_000001.10:g.227172607del , CM000663.1:g.227172607del GRCh37
NC_000001.9:g.225239230del NCBI36
NG_012825.1:g.49670del
NG_012825.2:g.92371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1537del MANE Select ENSP00000355739.3:p.Glu513AsnfsTer30
ENST00000366779.6:c.*6264del ENSP00000355741.2:n.*6264del
ENST00000366777.3:c.1537del ENSP00000355739.3:p.Glu513AsnfsTer30
ENST00000366778.5:c.1381del ENSP00000355740.1:p.Glu461AsnfsTer30
ENST00000366779.5:c.1537del ENSP00000355741.1:p.Glu513AsnfsTer30
ENST00000478406.5:n.2399del
ENST00000479852.1:n.724del
ENST00000485462.5:n.927del
NM_020247.4:c.1537del NP_064632.2:p.Glu513AsnfsTer30
XM_005273201.1:c.1537del XP_005273258.1:p.Glu513AsnfsTer30
XM_011544238.1:c.1537del XP_011542540.1:p.Glu513AsnfsTer30
XM_011544239.1:c.1537del XP_011542541.1:p.Glu513AsnfsTer30
XM_011544240.1:c.1537del XP_011542542.1:p.Glu513AsnfsTer30
XM_011544241.1:c.1537del XP_011542543.1:p.Glu513AsnfsTer30
XM_011544239.2:c.1537del XP_011542541.1:p.Glu513AsnfsTer30
XM_011544241.2:c.1537del XP_011542543.1:p.Glu513AsnfsTer30
XM_017001852.1:c.1537del XP_016857341.1:p.Glu513AsnfsTer30
XM_024448517.1:c.1537del XP_024304285.1:p.Glu513AsnfsTer30
XM_024448518.1:c.1537del XP_024304286.1:p.Glu513AsnfsTer30
NM_020247.5:c.1537del MANE Select NP_064632.2:p.Glu513AsnfsTer30