Canonical Allele Identifier: CA2758452010

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132670561_132670563del , CM000665.2:g.132670561_132670563del	GRCh38
NC_000003.11:g.132389405_132389407del , CM000665.1:g.132389405_132389407del	GRCh37
NC_000003.10:g.133872095_133872097del	NCBI36
NG_052968.1:g.21116_21118del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.665+277_665+279del (UBA5)	ENSP00000507396.1:n.665+277_665+279del
ENST00000356232.10:c.494+277_494+279del (UBA5) MANE Select	ENSP00000348565.4:n.494+277_494+279del
ENST00000264991.8:c.326+277_326+279del (UBA5)	ENSP00000264991.4:n.326+277_326+279del
ENST00000356232.8:c.494+277_494+279del (UBA5)	ENSP00000348565.4:n.494+277_494+279del
ENST00000464068.5:c.224+277_224+279del (UBA5)	ENSP00000420055.1:n.224+277_224+279del
ENST00000468227.5:n.1757+277_1757+279del (UBA5)
ENST00000471702.2:c.*1980+11353_*1980+11355del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+11353_*1980+11355del
ENST00000473651.5:c.494+277_494+279del (UBA5)	ENSP00000424984.1:n.494+277_494+279del
ENST00000493720.6:c.494+277_494+279del (UBA5)	ENSP00000417879.2:n.494+277_494+279del
ENST00000494238.6:c.326+277_326+279del (UBA5)	ENSP00000418807.2:n.326+277_326+279del
ENST00000505777.5:c.*163+277_*163+279del (UBA5)	ENSP00000427233.1:n.*163+277_*163+279del
ENST00000632629.1:c.636+11353_636+11355del (NPHP3-ACAD11)
NM_024818.3:c.494+277_494+279del (UBA5)	NP_079094.1:n.494+277_494+279del
NM_198329.2:c.326+277_326+279del (UBA5)	NP_938143.1:n.326+277_326+279del
NR_037804.1:n.3995+11353_3995+11355del (NPHP3-ACAD11)
XM_006713752.2:c.158+277_158+279del (UBA5)	XP_006713815.1:n.158+277_158+279del
XM_011513183.1:c.353+277_353+279del (UBA5)	XP_011511485.1:n.353+277_353+279del
XM_011513184.1:c.326+277_326+279del (UBA5)	XP_011511486.1:n.326+277_326+279del
XM_011513185.1:c.224+277_224+279del (UBA5)	XP_011511487.1:n.224+277_224+279del
NM_001320210.1:c.326+277_326+279del (UBA5)	NP_001307139.1:n.326+277_326+279del
NM_001321238.1:c.224+277_224+279del (UBA5)	NP_001308167.1:n.224+277_224+279del
NM_001321239.1:c.158+277_158+279del (UBA5)	NP_001308168.1:n.158+277_158+279del
NM_024818.4:c.494+277_494+279del (UBA5)	NP_079094.1:n.494+277_494+279del
NM_198329.3:c.326+277_326+279del (UBA5)	NP_938143.1:n.326+277_326+279del
XR_001740272.1:n.1096+277_1096+279del (UBA5)
NM_024818.5:c.494+277_494+279del (UBA5)	NP_079094.1:n.494+277_494+279del
NM_001320210.2:c.326+277_326+279del (UBA5)	NP_001307139.1:n.326+277_326+279del
NM_001321238.2:c.224+277_224+279del (UBA5)	NP_001308167.1:n.224+277_224+279del
NM_024818.6:c.494+277_494+279del (UBA5) MANE Select	NP_079094.1:n.494+277_494+279del
NM_198329.4:c.326+277_326+279del (UBA5)	NP_938143.1:n.326+277_326+279del