Canonical Allele Identifier: CA1225124483
Gene: COQ8A HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.226984809_226984810delinsTC , CM000663.2:g.226984809_226984810delinsTC GRCh38
NC_000001.10:g.227172510_227172511delinsTC , CM000663.1:g.227172510_227172511delinsTC GRCh37
NC_000001.9:g.225239133_225239134delinsTC NCBI36
NG_012825.1:g.49573_49574delinsTC
NG_012825.2:g.92274_92275delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000366777.4:c.1507-67_1507-66delinsTC MANE Select ENSP00000355739.3:n.1507-67_1507-66delinsTC
ENST00000366779.6:c.*6234-67_*6234-66delinsTC ENSP00000355741.2:n.*6234-67_*6234-66delinsTC
ENST00000366777.3:c.1507-67_1507-66delinsTC ENSP00000355739.3:n.1507-67_1507-66delinsTC
ENST00000366778.5:c.1351-67_1351-66delinsTC ENSP00000355740.1:n.1351-67_1351-66delinsTC
ENST00000366779.5:c.1507-67_1507-66delinsTC ENSP00000355741.1:n.1507-67_1507-66delinsTC
ENST00000478406.5:n.2369-67_2369-66delinsTC
ENST00000479852.1:n.694-67_694-66delinsTC
ENST00000485462.5:n.897-67_897-66delinsTC
NM_020247.4:c.1507-67_1507-66delinsTC NP_064632.2:n.1507-67_1507-66delinsTC
XM_005273201.1:c.1507-67_1507-66delinsTC XP_005273258.1:n.1507-67_1507-66delinsTC
XM_011544238.1:c.1507-67_1507-66delinsTC XP_011542540.1:n.1507-67_1507-66delinsTC
XM_011544239.1:c.1507-67_1507-66delinsTC XP_011542541.1:n.1507-67_1507-66delinsTC
XM_011544240.1:c.1507-67_1507-66delinsTC XP_011542542.1:n.1507-67_1507-66delinsTC
XM_011544241.1:c.1507-67_1507-66delinsTC XP_011542543.1:n.1507-67_1507-66delinsTC
XM_011544239.2:c.1507-67_1507-66delinsTC XP_011542541.1:n.1507-67_1507-66delinsTC
XM_011544241.2:c.1507-67_1507-66delinsTC XP_011542543.1:n.1507-67_1507-66delinsTC
XM_017001852.1:c.1507-67_1507-66delinsTC XP_016857341.1:n.1507-67_1507-66delinsTC
XM_024448517.1:c.1507-67_1507-66delinsTC XP_024304285.1:n.1507-67_1507-66delinsTC
XM_024448518.1:c.1507-67_1507-66delinsTC XP_024304286.1:n.1507-67_1507-66delinsTC
NM_020247.5:c.1507-67_1507-66delinsTC MANE Select NP_064632.2:n.1507-67_1507-66delinsTC