Canonical Allele Identifier: CA263578049

Gene: COQ6 ENTPD5

Linked Data

• dbSNP Id: rs775872831
• gnomAD v2: 14-74429783-TATTTA-T
• gnomAD v3: 14-73963080-TATTTA-T
• gnomAD v4: 14-73963080-TATTTA-T
• MyVariant Identifiers: chr14:g.74429789_74429793del (hg19) ; chr14:g.74429784_74429788del (hg19) ; chr14:g.73963086_73963090del (hg38) ; chr14:g.73963081_73963085del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73963088_73963092del , CM000676.2:g.73963088_73963092del	GRCh38
NC_000014.8:g.74429791_74429795del , CM000676.1:g.74429791_74429795del	GRCh37
NC_000014.7:g.73499544_73499548del	NCBI36
NG_032805.1:g.18155_18159del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.*89_*93del (COQ6) MANE Select	ENSP00000333946.2:n.*89_*93del
ENST00000238709.8:c.*89_*93del (COQ6)	ENSP00000238709.5:n.*89_*93del
ENST00000334571.6:c.*89_*93del (COQ6)	ENSP00000333946.2:n.*89_*93del
ENST00000334696.10:c.*3843_*3847del (ENTPD5)	ENSP00000335246.6:n.*3843_*3847del
ENST00000394026.8:c.*89_*93del (COQ6)	ENSP00000377594.4:n.*89_*93del
ENST00000554920.5:c.600_*1del (COQ6)	ENSP00000451562.1:n.[c.600_*1del;Ter201AsnextTer?]
ENST00000555829.5:c.225-1535_225-1531del (ENTPD5)
ENST00000556299.1:n.707_711del (COQ6)
ENST00000556588.5:n.3096_3100del (COQ6)
ENST00000557325.5:c.1201-3532_1201-3528del (ENTPD5)	ENSP00000451810.1:n.1201-3532_1201-3528del
ENST00000557780.5:n.462_466del (COQ6)
ENST00000629426.2:c.*89_*93del (COQ6)	ENSP00000486650.1:n.*89_*93del
NM_182476.2:c.*89_*93del (COQ6)	NP_872282.1:n.*89_*93del
NM_182480.2:c.*89_*93del (COQ6)	NP_872286.2:n.*89_*93del
XM_005267716.1:c.*89_*93del (COQ6)	XP_005267773.1:n.*89_*93del
XM_006720156.1:c.*89_*93del (COQ6)	XP_006720219.1:n.*89_*93del
XM_006720325.2:c.1201-3532_1201-3528del (ENTPD5)	XP_006720388.1:n.1201-3532_1201-3528del
XM_011536807.1:c.*89_*93del (COQ6)	XP_011535109.1:n.*89_*93del
XM_011536808.1:c.*89_*93del (COQ6)	XP_011535110.1:n.*89_*93del
XM_011536809.1:c.*89_*93del (COQ6)	XP_011535111.1:n.*89_*93del
XM_011536811.1:c.*89_*93del (COQ6)	XP_011535113.1:n.*89_*93del
NM_001321984.1:c.1201-1535_1201-1531del (ENTPD5)	NP_001308913.1:n.1201-1535_1201-1531del
NM_001330189.1:c.1201-3532_1201-3528del (ENTPD5)	NP_001317118.1:n.1201-3532_1201-3528del
XM_006720325.3:c.1201-3532_1201-3528del (ENTPD5)	XP_006720388.1:n.1201-3532_1201-3528del
XM_011536807.2:c.*89_*93del (COQ6)	XP_011535109.1:n.*89_*93del
XM_011536808.2:c.*89_*93del (COQ6)	XP_011535110.1:n.*89_*93del
XM_011536809.3:c.*89_*93del (COQ6)	XP_011535111.1:n.*89_*93del
XM_011536810.3:c.*89_*93del (COQ6)	XP_011535112.1:n.*89_*93del
XM_017021351.2:c.*89_*93del (COQ6)	XP_016876840.1:n.*89_*93del
XM_017021352.2:c.*89_*93del (COQ6)	XP_016876841.1:n.*89_*93del
XM_017021814.1:c.1201-3532_1201-3528del (ENTPD5)	XP_016877303.1:n.1201-3532_1201-3528del
XM_017021817.1:c.1060-3532_1060-3528del (ENTPD5)	XP_016877306.1:n.1060-3532_1060-3528del
XM_024449619.1:c.*89_*93del (COQ6)	XP_024305387.1:n.*89_*93del
XR_001750342.1:n.1650_1654del (COQ6)
NM_001249.4:c.*3843_*3847del (ENTPD5)	NP_001240.1:n.*3843_*3847del
NM_001321984.2:c.1201-1535_1201-1531del (ENTPD5)	NP_001308913.1:n.1201-1535_1201-1531del
NM_001321985.2:c.*3843_*3847del (ENTPD5)	NP_001308914.1:n.*3843_*3847del
NM_001321986.2:c.*3843_*3847del (ENTPD5)	NP_001308915.1:n.*3843_*3847del
NM_001321987.2:c.*3843_*3847del (ENTPD5)	NP_001308916.1:n.*3843_*3847del
NM_001321988.2:c.*3843_*3847del (ENTPD5)	NP_001308917.1:n.*3843_*3847del
NM_001330189.2:c.1201-3532_1201-3528del (ENTPD5)	NP_001317118.1:n.1201-3532_1201-3528del
NM_182476.3:c.*89_*93del (COQ6) MANE Select	NP_872282.1:n.*89_*93del
NM_001382258.1:c.1200+6925_1200+6929del (ENTPD5)	NP_001369187.1:n.1200+6925_1200+6929del
NM_001382259.1:c.1201-3532_1201-3528del (ENTPD5)	NP_001369188.1:n.1201-3532_1201-3528del
NM_001382260.1:c.1201-3532_1201-3528del (ENTPD5)	NP_001369189.1:n.1201-3532_1201-3528del
NM_001382262.1:c.1200+6925_1200+6929del (ENTPD5)	NP_001369191.1:n.1200+6925_1200+6929del
NM_182480.3:c.*89_*93del (COQ6)	NP_872286.2:n.*89_*93del