Canonical Allele Identifier: CA7264531

Gene: COQ6 ENTPD5

Linked Data

• dbSNP Id: rs746322320
• ExAC: 14:74429635 TGTGTTAAGAGTTTCATTCACTTTTATTTTTTCTCCAGGAACAG / T
• gnomAD v2: 14-74429635-TGTGTTAAGAGTTTCATTCACTTTTATTTTTTCTCCAGGAACAG-T
• gnomAD v4: 14-73962932-TGTGTTAAGAGTTTCATTCACTTTTATTTTTTCTCCAGGAACAG-T
• MyVariant Identifiers: chr14:g.74429636_74429678del (hg19) ; chr14:g.73962933_73962975del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.73962933_73962975del , CM000676.2:g.73962933_73962975del	GRCh38
NC_000014.8:g.74429636_74429678del , CM000676.1:g.74429636_74429678del	GRCh37
NC_000014.7:g.73499389_73499431del	NCBI36
NG_032805.1:g.18000_18042del

Transcript Alleles

HGVS	Amino-acid change
ENST00000334571.7:c.1378-37_1383del (COQ6)
ENST00000238709.8:c.1375-37_1380del (COQ6)
ENST00000334571.6:c.1378-37_1383del (COQ6)
ENST00000334696.10:c.*3953_*3995del (ENTPD5)	ENSP00000335246.6:n.*3953_*3995del
ENST00000394026.8:c.1303-37_1308del (COQ6)
ENST00000554341.6:c.*983-43_*983-1del (COQ6)	ENSP00000450736.2:n.*983-43_*983-1del
ENST00000554920.5:c.482-37_487del (COQ6)
ENST00000555829.5:c.225-1425_225-1383del (ENTPD5)
ENST00000556299.1:n.589-37_594del (COQ6)
ENST00000556588.5:n.2978-37_2983del (COQ6)
ENST00000557325.5:c.1201-3422_1201-3380del (ENTPD5)	ENSP00000451810.1:n.1201-3422_1201-3380del
ENST00000557780.5:n.344-37_349del (COQ6)
ENST00000629426.2:c.1153-37_1158del (COQ6)
NM_182476.2:c.1378-37_1383del (COQ6)
NM_182480.2:c.1303-37_1308del (COQ6)
XM_005267716.1:c.1213-37_1218del (COQ6)
XM_006720156.1:c.1051-37_1056del (COQ6)
XM_006720325.2:c.1201-3422_1201-3380del (ENTPD5)	XP_006720388.1:n.1201-3422_1201-3380del
XM_011536807.1:c.1270-37_1275del (COQ6)
XM_011536808.1:c.1153-37_1158del (COQ6)
XM_011536809.1:c.1153-37_1158del (COQ6)
XM_011536810.1:c.892-37_897del (COQ6)
XM_011536811.1:c.838-37_843del (COQ6)
NM_001321984.1:c.1201-1425_1201-1383del (ENTPD5)	NP_001308913.1:n.1201-1425_1201-1383del
NM_001330189.1:c.1201-3422_1201-3380del (ENTPD5)	NP_001317118.1:n.1201-3422_1201-3380del
XM_006720325.3:c.1201-3422_1201-3380del (ENTPD5)	XP_006720388.1:n.1201-3422_1201-3380del
XM_011536807.2:c.1270-37_1275del (COQ6)
XM_011536808.2:c.1153-37_1158del (COQ6)
XM_011536809.3:c.1153-37_1158del (COQ6)
XM_011536810.3:c.892-37_897del (COQ6)
XM_017021351.2:c.838-37_843del (COQ6)
XM_017021352.2:c.772-37_777del (COQ6)
XM_017021814.1:c.1201-3422_1201-3380del (ENTPD5)	XP_016877303.1:n.1201-3422_1201-3380del
XM_017021817.1:c.1060-3422_1060-3380del (ENTPD5)	XP_016877306.1:n.1060-3422_1060-3380del
XM_024449619.1:c.772-37_777del (COQ6)
XR_001750342.1:n.1532-37_1537del (COQ6)
NM_001249.4:c.*3953_*3995del (ENTPD5)	NP_001240.1:n.*3953_*3995del
NM_001321984.2:c.1201-1425_1201-1383del (ENTPD5)	NP_001308913.1:n.1201-1425_1201-1383del
NM_001321985.2:c.*3953_*3995del (ENTPD5)	NP_001308914.1:n.*3953_*3995del
NM_001321986.2:c.*3953_*3995del (ENTPD5)	NP_001308915.1:n.*3953_*3995del
NM_001321987.2:c.*3953_*3995del (ENTPD5)	NP_001308916.1:n.*3953_*3995del
NM_001321988.2:c.*3953_*3995del (ENTPD5)	NP_001308917.1:n.*3953_*3995del
NM_001330189.2:c.1201-3422_1201-3380del (ENTPD5)	NP_001317118.1:n.1201-3422_1201-3380del
NM_182476.3:c.1378-37_1383del (COQ6)
NM_001382258.1:c.1200+7035_1200+7077del (ENTPD5)	NP_001369187.1:n.1200+7035_1200+7077del
NM_001382259.1:c.1201-3422_1201-3380del (ENTPD5)	NP_001369188.1:n.1201-3422_1201-3380del
NM_001382260.1:c.1201-3422_1201-3380del (ENTPD5)	NP_001369189.1:n.1201-3422_1201-3380del
NM_001382262.1:c.1200+7035_1200+7077del (ENTPD5)	NP_001369191.1:n.1200+7035_1200+7077del
NM_182480.3:c.1303-37_1308del (COQ6)