Canonical Allele Identifier: CA16619885
Gene: COQ6 HGNC NCBI
ENTPD5 HGNC NCBI

Linked Data

ClinVar Variation Id: 423078
ClinVar RCV Id: RCV000479122
dbSNP Id: rs1064796212
MyVariant Identifiers: chr14:g.74428216_74428217del (hg19) chr14:g.73961513_73961514del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73961513_73961514del , CM000676.2:g.73961513_73961514del GRCh38
NC_000014.8:g.74428216_74428217del , CM000676.1:g.74428216_74428217del GRCh37
NC_000014.7:g.73497969_73497970del NCBI36
NG_032805.1:g.16580_16581del

Transcript Alleles

HGVS Amino-acid change
ENST00000334571.7:c.1153_1154del (COQ6) MANE Select ENSP00000333946.2:p.Asp385TyrfsTer28
ENST00000238709.8:c.1150_1151del (COQ6) ENSP00000238709.5:p.Asp384TyrfsTer28
ENST00000334571.6:c.1153_1154del (COQ6) ENSP00000333946.2:p.Asp385TyrfsTer28
ENST00000394026.8:c.1078_1079del (COQ6) ENSP00000377594.4:p.Asp360TyrfsTer28
ENST00000554341.6:c.*758_*759del (COQ6) ENSP00000450736.2:n.*758_*759del
ENST00000554920.5:c.482-1457_482-1456del (COQ6) ENSP00000451562.1:n.482-1457_482-1456del
ENST00000555829.5:c.261_262del (ENTPD5)
ENST00000556299.1:n.364_365del (COQ6)
ENST00000556588.5:n.2753_2754del (COQ6)
ENST00000557325.5:c.1201-1961_1201-1960del (ENTPD5) ENSP00000451810.1:n.1201-1961_1201-1960de...
ENST00000557780.5:n.286_287del (COQ6)
ENST00000629426.2:c.928_929del (COQ6) ENSP00000486650.1:p.Asp310TyrfsTer28
NM_182476.2:c.1153_1154del (COQ6) NP_872282.1:p.Asp385TyrfsTer28
NM_182480.2:c.1078_1079del (COQ6) NP_872286.2:p.Asp360TyrfsTer28
XM_005267716.1:c.988_989del (COQ6) XP_005267773.1:p.Asp330TyrfsTer28
XM_006720156.1:c.826_827del (COQ6) XP_006720219.1:p.Asp276TyrfsTer28
XM_006720325.2:c.1201-1961_1201-1960del (ENTPD5) XP_006720388.1:n.1201-1961_1201-1960del
XM_011536807.1:c.1045_1046del (COQ6) XP_011535109.1:p.Asp349TyrfsTer28
XM_011536808.1:c.928_929del (COQ6) XP_011535110.1:p.Asp310TyrfsTer28
XM_011536809.1:c.928_929del (COQ6) XP_011535111.1:p.Asp310TyrfsTer28
XM_011536810.1:c.892-1457_892-1456del (COQ6) XP_011535112.1:n.892-1457_892-1456del
XM_011536811.1:c.613_614del (COQ6) XP_011535113.1:p.Asp205TyrfsTer28
NM_001321984.1:c.*19_*20del (ENTPD5) NP_001308913.1:n.*19_*20del
NM_001330189.1:c.1201-1961_1201-1960del (ENTPD5) NP_001317118.1:n.1201-1961_1201-1960del
XM_006720325.3:c.1201-1961_1201-1960del (ENTPD5) XP_006720388.1:n.1201-1961_1201-1960del
XM_011536807.2:c.1045_1046del (COQ6) XP_011535109.1:p.Asp349TyrfsTer28
XM_011536808.2:c.928_929del (COQ6) XP_011535110.1:p.Asp310TyrfsTer28
XM_011536809.3:c.928_929del (COQ6) XP_011535111.1:p.Asp310TyrfsTer28
XM_011536810.3:c.892-1457_892-1456del (COQ6) XP_011535112.1:n.892-1457_892-1456del
XM_017021351.2:c.613_614del (COQ6) XP_016876840.1:p.Asp205TyrfsTer28
XM_017021352.2:c.547_548del (COQ6) XP_016876841.1:p.Asp183TyrfsTer28
XM_017021814.1:c.1201-1961_1201-1960del (ENTPD5) XP_016877303.1:n.1201-1961_1201-1960del
XM_017021817.1:c.1060-1961_1060-1960del (ENTPD5) XP_016877306.1:n.1060-1961_1060-1960del
XM_024449619.1:c.547_548del (COQ6) XP_024305387.1:p.Asp183TyrfsTer28
XR_001750342.1:n.1307_1308del (COQ6)
NM_001321984.2:c.*19_*20del (ENTPD5) NP_001308913.1:n.*19_*20del
NM_001330189.2:c.1201-1961_1201-1960del (ENTPD5) NP_001317118.1:n.1201-1961_1201-1960del
NM_182476.3:c.1153_1154del (COQ6) MANE Select NP_872282.1:p.Asp385TyrfsTer28
NM_001382258.1:c.1201-5927_1201-5926del (ENTPD5) NP_001369187.1:n.1201-5927_1201-5926del
NM_001382259.1:c.1201-1961_1201-1960del (ENTPD5) NP_001369188.1:n.1201-1961_1201-1960del
NM_001382260.1:c.1201-1961_1201-1960del (ENTPD5) NP_001369189.1:n.1201-1961_1201-1960del
NM_001382262.1:c.1201-5686_1201-5685del (ENTPD5) NP_001369191.1:n.1201-5686_1201-5685del
NM_182480.3:c.1078_1079del (COQ6) NP_872286.2:p.Asp360TyrfsTer28
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