Canonical Allele Identifier: CA1402635099

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132670614_132670615delinsAT , CM000665.2:g.132670614_132670615delinsAT	GRCh38
NC_000003.11:g.132389458_132389459delinsAT , CM000665.1:g.132389458_132389459delinsAT	GRCh37
NC_000003.10:g.133872148_133872149delinsAT	NCBI36
NG_052968.1:g.21169_21170delinsAT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.665+330_665+331delinsAT (UBA5)	ENSP00000507396.1:n.665+330_665+331delinsAT
ENST00000356232.10:c.494+330_494+331delinsAT (UBA5) MANE Select	ENSP00000348565.4:n.494+330_494+331delinsAT
ENST00000264991.8:c.326+330_326+331delinsAT (UBA5)	ENSP00000264991.4:n.326+330_326+331delinsAT
ENST00000356232.8:c.494+330_494+331delinsAT (UBA5)	ENSP00000348565.4:n.494+330_494+331delinsAT
ENST00000464068.5:c.224+330_224+331delinsAT (UBA5)	ENSP00000420055.1:n.224+330_224+331delinsAT
ENST00000468227.5:n.1757+330_1757+331delinsAT (UBA5)
ENST00000471702.2:c.*1980+11299_*1980+11300delinsAT (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+11299_*1980+11300delinsAT
ENST00000473651.5:c.494+330_494+331delinsAT (UBA5)	ENSP00000424984.1:n.494+330_494+331delinsAT
ENST00000493720.6:c.494+330_494+331delinsAT (UBA5)	ENSP00000417879.2:n.494+330_494+331delinsAT
ENST00000494238.6:c.326+330_326+331delinsAT (UBA5)	ENSP00000418807.2:n.326+330_326+331delinsAT
ENST00000505777.5:c.*163+330_*163+331delinsAT (UBA5)	ENSP00000427233.1:n.*163+330_*163+331delinsAT
ENST00000632629.1:c.636+11299_636+11300delinsAT (NPHP3-ACAD11)
NM_024818.3:c.494+330_494+331delinsAT (UBA5)	NP_079094.1:n.494+330_494+331delinsAT
NM_198329.2:c.326+330_326+331delinsAT (UBA5)	NP_938143.1:n.326+330_326+331delinsAT
NR_037804.1:n.3995+11299_3995+11300delinsAT (NPHP3-ACAD11)
XM_006713752.2:c.158+330_158+331delinsAT (UBA5)	XP_006713815.1:n.158+330_158+331delinsAT
XM_011513183.1:c.353+330_353+331delinsAT (UBA5)	XP_011511485.1:n.353+330_353+331delinsAT
XM_011513184.1:c.326+330_326+331delinsAT (UBA5)	XP_011511486.1:n.326+330_326+331delinsAT
XM_011513185.1:c.224+330_224+331delinsAT (UBA5)	XP_011511487.1:n.224+330_224+331delinsAT
NM_001320210.1:c.326+330_326+331delinsAT (UBA5)	NP_001307139.1:n.326+330_326+331delinsAT
NM_001321238.1:c.224+330_224+331delinsAT (UBA5)	NP_001308167.1:n.224+330_224+331delinsAT
NM_001321239.1:c.158+330_158+331delinsAT (UBA5)	NP_001308168.1:n.158+330_158+331delinsAT
NM_024818.4:c.494+330_494+331delinsAT (UBA5)	NP_079094.1:n.494+330_494+331delinsAT
NM_198329.3:c.326+330_326+331delinsAT (UBA5)	NP_938143.1:n.326+330_326+331delinsAT
XR_001740272.1:n.1096+330_1096+331delinsAT (UBA5)
NM_024818.5:c.494+330_494+331delinsAT (UBA5)	NP_079094.1:n.494+330_494+331delinsAT
NM_001320210.2:c.326+330_326+331delinsAT (UBA5)	NP_001307139.1:n.326+330_326+331delinsAT
NM_001321238.2:c.224+330_224+331delinsAT (UBA5)	NP_001308167.1:n.224+330_224+331delinsAT
NM_024818.6:c.494+330_494+331delinsAT (UBA5) MANE Select	NP_079094.1:n.494+330_494+331delinsAT
NM_198329.4:c.326+330_326+331delinsAT (UBA5)	NP_938143.1:n.326+330_326+331delinsAT