Canonical Allele Identifier: CA1225124477
Gene: COQ8A HGNC NCBI

Linked Data

dbSNP Id: rs1659975722

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984805_226984807del , CM000663.2:g.226984805_226984807del GRCh38
NC_000001.10:g.227172506_227172508del , CM000663.1:g.227172506_227172508del GRCh37
NC_000001.9:g.225239129_225239131del NCBI36
NG_012825.1:g.49569_49571del
NG_012825.2:g.92270_92272del

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1507-71_1507-69del MANE Select ENSP00000355739.3:n.1507-71_1507-69del
ENST00000366779.6:c.*6234-71_*6234-69del ENSP00000355741.2:n.*6234-71_*6234-69del
ENST00000366777.3:c.1507-71_1507-69del ENSP00000355739.3:n.1507-71_1507-69del
ENST00000366778.5:c.1351-71_1351-69del ENSP00000355740.1:n.1351-71_1351-69del
ENST00000366779.5:c.1507-71_1507-69del ENSP00000355741.1:n.1507-71_1507-69del
ENST00000478406.5:n.2369-71_2369-69del
ENST00000479852.1:n.694-71_694-69del
ENST00000485462.5:n.897-71_897-69del
NM_020247.4:c.1507-71_1507-69del NP_064632.2:n.1507-71_1507-69del
XM_005273201.1:c.1507-71_1507-69del XP_005273258.1:n.1507-71_1507-69del
XM_011544238.1:c.1507-71_1507-69del XP_011542540.1:n.1507-71_1507-69del
XM_011544239.1:c.1507-71_1507-69del XP_011542541.1:n.1507-71_1507-69del
XM_011544240.1:c.1507-71_1507-69del XP_011542542.1:n.1507-71_1507-69del
XM_011544241.1:c.1507-71_1507-69del XP_011542543.1:n.1507-71_1507-69del
XM_011544239.2:c.1507-71_1507-69del XP_011542541.1:n.1507-71_1507-69del
XM_011544241.2:c.1507-71_1507-69del XP_011542543.1:n.1507-71_1507-69del
XM_017001852.1:c.1507-71_1507-69del XP_016857341.1:n.1507-71_1507-69del
XM_024448517.1:c.1507-71_1507-69del XP_024304285.1:n.1507-71_1507-69del
XM_024448518.1:c.1507-71_1507-69del XP_024304286.1:n.1507-71_1507-69del
NM_020247.5:c.1507-71_1507-69del MANE Select NP_064632.2:n.1507-71_1507-69del