Canonical Allele Identifier: CA7264528

Gene: COQ6 ENTPD5

Linked Data

• dbSNP Id: rs778303612
• ExAC: 14:74429634 C / CTG
• gnomAD v2: 14-74429634-C-CTG
• gnomAD v4: 14-73962931-C-CTG
• MyVariant Identifiers: chr14:g.74429634_74429635insTG (hg19) ; chr14:g.73962931_73962932insTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73962935_73962936dup , CM000676.2:g.73962935_73962936dup	GRCh38
NC_000014.8:g.74429638_74429639dup , CM000676.1:g.74429638_74429639dup	GRCh37
NC_000014.7:g.73499391_73499392dup	NCBI36
NG_032805.1:g.18002_18003dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334571.7:c.1378-35_1378-34dup (COQ6) MANE Select	ENSP00000333946.2:n.1378-35_1378-34dup
ENST00000238709.8:c.1375-35_1375-34dup (COQ6)	ENSP00000238709.5:n.1375-35_1375-34dup
ENST00000334571.6:c.1378-35_1378-34dup (COQ6)	ENSP00000333946.2:n.1378-35_1378-34dup
ENST00000334696.10:c.*3995_*3996dup (ENTPD5)	ENSP00000335246.6:n.*3995_*3996dup
ENST00000394026.8:c.1303-35_1303-34dup (COQ6)	ENSP00000377594.4:n.1303-35_1303-34dup
ENST00000554341.6:c.*983-41_*983-40dup (COQ6)	ENSP00000450736.2:n.*983-41_*983-40dup
ENST00000554920.5:c.482-35_482-34dup (COQ6)	ENSP00000451562.1:n.482-35_482-34dup
ENST00000555829.5:c.225-1383_225-1382dup (ENTPD5)
ENST00000556299.1:n.589-35_589-34dup (COQ6)
ENST00000556588.5:n.2978-35_2978-34dup (COQ6)
ENST00000557325.5:c.1201-3380_1201-3379dup (ENTPD5)	ENSP00000451810.1:n.1201-3380_1201-3379dup
ENST00000557780.5:n.344-35_344-34dup (COQ6)
ENST00000629426.2:c.1153-35_1153-34dup (COQ6)	ENSP00000486650.1:n.1153-35_1153-34dup
NM_182476.2:c.1378-35_1378-34dup (COQ6)	NP_872282.1:n.1378-35_1378-34dup
NM_182480.2:c.1303-35_1303-34dup (COQ6)	NP_872286.2:n.1303-35_1303-34dup
XM_005267716.1:c.1213-35_1213-34dup (COQ6)	XP_005267773.1:n.1213-35_1213-34dup
XM_006720156.1:c.1051-35_1051-34dup (COQ6)	XP_006720219.1:n.1051-35_1051-34dup
XM_006720325.2:c.1201-3380_1201-3379dup (ENTPD5)	XP_006720388.1:n.1201-3380_1201-3379dup
XM_011536807.1:c.1270-35_1270-34dup (COQ6)	XP_011535109.1:n.1270-35_1270-34dup
XM_011536808.1:c.1153-35_1153-34dup (COQ6)	XP_011535110.1:n.1153-35_1153-34dup
XM_011536809.1:c.1153-35_1153-34dup (COQ6)	XP_011535111.1:n.1153-35_1153-34dup
XM_011536810.1:c.892-35_892-34dup (COQ6)	XP_011535112.1:n.892-35_892-34dup
XM_011536811.1:c.838-35_838-34dup (COQ6)	XP_011535113.1:n.838-35_838-34dup
NM_001321984.1:c.1201-1383_1201-1382dup (ENTPD5)	NP_001308913.1:n.1201-1383_1201-1382dup
NM_001330189.1:c.1201-3380_1201-3379dup (ENTPD5)	NP_001317118.1:n.1201-3380_1201-3379dup
XM_006720325.3:c.1201-3380_1201-3379dup (ENTPD5)	XP_006720388.1:n.1201-3380_1201-3379dup
XM_011536807.2:c.1270-35_1270-34dup (COQ6)	XP_011535109.1:n.1270-35_1270-34dup
XM_011536808.2:c.1153-35_1153-34dup (COQ6)	XP_011535110.1:n.1153-35_1153-34dup
XM_011536809.3:c.1153-35_1153-34dup (COQ6)	XP_011535111.1:n.1153-35_1153-34dup
XM_011536810.3:c.892-35_892-34dup (COQ6)	XP_011535112.1:n.892-35_892-34dup
XM_017021351.2:c.838-35_838-34dup (COQ6)	XP_016876840.1:n.838-35_838-34dup
XM_017021352.2:c.772-35_772-34dup (COQ6)	XP_016876841.1:n.772-35_772-34dup
XM_017021814.1:c.1201-3380_1201-3379dup (ENTPD5)	XP_016877303.1:n.1201-3380_1201-3379dup
XM_017021817.1:c.1060-3380_1060-3379dup (ENTPD5)	XP_016877306.1:n.1060-3380_1060-3379dup
XM_024449619.1:c.772-35_772-34dup (COQ6)	XP_024305387.1:n.772-35_772-34dup
XR_001750342.1:n.1532-35_1532-34dup (COQ6)
NM_001249.4:c.*3995_*3996dup (ENTPD5)	NP_001240.1:n.*3995_*3996dup
NM_001321984.2:c.1201-1383_1201-1382dup (ENTPD5)	NP_001308913.1:n.1201-1383_1201-1382dup
NM_001321985.2:c.*3995_*3996dup (ENTPD5)	NP_001308914.1:n.*3995_*3996dup
NM_001321986.2:c.*3995_*3996dup (ENTPD5)	NP_001308915.1:n.*3995_*3996dup
NM_001321987.2:c.*3995_*3996dup (ENTPD5)	NP_001308916.1:n.*3995_*3996dup
NM_001321988.2:c.*3995_*3996dup (ENTPD5)	NP_001308917.1:n.*3995_*3996dup
NM_001330189.2:c.1201-3380_1201-3379dup (ENTPD5)	NP_001317118.1:n.1201-3380_1201-3379dup
NM_182476.3:c.1378-35_1378-34dup (COQ6) MANE Select	NP_872282.1:n.1378-35_1378-34dup
NM_001382258.1:c.1200+7077_1200+7078dup (ENTPD5)	NP_001369187.1:n.1200+7077_1200+7078dup
NM_001382259.1:c.1201-3380_1201-3379dup (ENTPD5)	NP_001369188.1:n.1201-3380_1201-3379dup
NM_001382260.1:c.1201-3380_1201-3379dup (ENTPD5)	NP_001369189.1:n.1201-3380_1201-3379dup
NM_001382262.1:c.1200+7077_1200+7078dup (ENTPD5)	NP_001369191.1:n.1200+7077_1200+7078dup
NM_182480.3:c.1303-35_1303-34dup (COQ6)	NP_872286.2:n.1303-35_1303-34dup