Canonical Allele Identifier: CA2802140374

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.73962902_73962904dup , CM000676.2:g.73962902_73962904dup GRCh38
NC_000014.8:g.74429605_74429607dup , CM000676.1:g.74429605_74429607dup GRCh37
NC_000014.7:g.73499358_73499360dup NCBI36
NG_032805.1:g.17969_17971dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000334571.7:c.1378-68_1378-66dup (COQ6) MANE Select ENSP00000333946.2:n.1378-68_1378-66dup
ENST00000238709.8:c.1375-68_1375-66dup (COQ6) ENSP00000238709.5:n.1375-68_1375-66dup
ENST00000334571.6:c.1378-68_1378-66dup (COQ6) ENSP00000333946.2:n.1378-68_1378-66dup
ENST00000334696.10:c.*4029_*4031dup (ENTPD5) ENSP00000335246.6:n.*4029_*4031dup
ENST00000394026.8:c.1303-68_1303-66dup (COQ6) ENSP00000377594.4:n.1303-68_1303-66dup
ENST00000554341.6:c.*983-74_*983-72dup (COQ6) ENSP00000450736.2:n.*983-74_*983-72dup
ENST00000554920.5:c.482-68_482-66dup (COQ6) ENSP00000451562.1:n.482-68_482-66dup
ENST00000555829.5:c.225-1349_225-1347dup (ENTPD5)
ENST00000556299.1:n.589-68_589-66dup (COQ6)
ENST00000556588.5:n.2978-68_2978-66dup (COQ6)
ENST00000557325.5:c.1201-3346_1201-3344dup (ENTPD5) ENSP00000451810.1:n.1201-3346_1201-3344dup
ENST00000557780.5:n.344-68_344-66dup (COQ6)
ENST00000629426.2:c.1153-68_1153-66dup (COQ6) ENSP00000486650.1:n.1153-68_1153-66dup
NM_182476.2:c.1378-68_1378-66dup (COQ6) NP_872282.1:n.1378-68_1378-66dup
NM_182480.2:c.1303-68_1303-66dup (COQ6) NP_872286.2:n.1303-68_1303-66dup
XM_005267716.1:c.1213-68_1213-66dup (COQ6) XP_005267773.1:n.1213-68_1213-66dup
XM_006720156.1:c.1051-68_1051-66dup (COQ6) XP_006720219.1:n.1051-68_1051-66dup
XM_006720325.2:c.1201-3346_1201-3344dup (ENTPD5) XP_006720388.1:n.1201-3346_1201-3344dup
XM_011536807.1:c.1270-68_1270-66dup (COQ6) XP_011535109.1:n.1270-68_1270-66dup
XM_011536808.1:c.1153-68_1153-66dup (COQ6) XP_011535110.1:n.1153-68_1153-66dup
XM_011536809.1:c.1153-68_1153-66dup (COQ6) XP_011535111.1:n.1153-68_1153-66dup
XM_011536810.1:c.892-68_892-66dup (COQ6) XP_011535112.1:n.892-68_892-66dup
XM_011536811.1:c.838-68_838-66dup (COQ6) XP_011535113.1:n.838-68_838-66dup
NM_001321984.1:c.1201-1349_1201-1347dup (ENTPD5) NP_001308913.1:n.1201-1349_1201-1347dup
NM_001330189.1:c.1201-3346_1201-3344dup (ENTPD5) NP_001317118.1:n.1201-3346_1201-3344dup
XM_006720325.3:c.1201-3346_1201-3344dup (ENTPD5) XP_006720388.1:n.1201-3346_1201-3344dup
XM_011536807.2:c.1270-68_1270-66dup (COQ6) XP_011535109.1:n.1270-68_1270-66dup
XM_011536808.2:c.1153-68_1153-66dup (COQ6) XP_011535110.1:n.1153-68_1153-66dup
XM_011536809.3:c.1153-68_1153-66dup (COQ6) XP_011535111.1:n.1153-68_1153-66dup
XM_011536810.3:c.892-68_892-66dup (COQ6) XP_011535112.1:n.892-68_892-66dup
XM_017021351.2:c.838-68_838-66dup (COQ6) XP_016876840.1:n.838-68_838-66dup
XM_017021352.2:c.772-68_772-66dup (COQ6) XP_016876841.1:n.772-68_772-66dup
XM_017021814.1:c.1201-3346_1201-3344dup (ENTPD5) XP_016877303.1:n.1201-3346_1201-3344dup
XM_017021817.1:c.1060-3346_1060-3344dup (ENTPD5) XP_016877306.1:n.1060-3346_1060-3344dup
XM_024449619.1:c.772-68_772-66dup (COQ6) XP_024305387.1:n.772-68_772-66dup
XR_001750342.1:n.1532-68_1532-66dup (COQ6)
NM_001249.4:c.*4029_*4031dup (ENTPD5) NP_001240.1:n.*4029_*4031dup
NM_001321984.2:c.1201-1349_1201-1347dup (ENTPD5) NP_001308913.1:n.1201-1349_1201-1347dup
NM_001321985.2:c.*4029_*4031dup (ENTPD5) NP_001308914.1:n.*4029_*4031dup
NM_001321986.2:c.*4029_*4031dup (ENTPD5) NP_001308915.1:n.*4029_*4031dup
NM_001321987.2:c.*4029_*4031dup (ENTPD5) NP_001308916.1:n.*4029_*4031dup
NM_001321988.2:c.*4029_*4031dup (ENTPD5) NP_001308917.1:n.*4029_*4031dup
NM_001330189.2:c.1201-3346_1201-3344dup (ENTPD5) NP_001317118.1:n.1201-3346_1201-3344dup
NM_182476.3:c.1378-68_1378-66dup (COQ6) MANE Select NP_872282.1:n.1378-68_1378-66dup
NM_001382258.1:c.1200+7111_1200+7113dup (ENTPD5) NP_001369187.1:n.1200+7111_1200+7113dup
NM_001382259.1:c.1201-3346_1201-3344dup (ENTPD5) NP_001369188.1:n.1201-3346_1201-3344dup
NM_001382260.1:c.1201-3346_1201-3344dup (ENTPD5) NP_001369189.1:n.1201-3346_1201-3344dup
NM_001382262.1:c.1201-7071_1201-7069dup (ENTPD5) NP_001369191.1:n.1201-7071_1201-7069dup
NM_182480.3:c.1303-68_1303-66dup (COQ6) NP_872286.2:n.1303-68_1303-66dup