Canonical Allele Identifier: CA2667733974

Gene: UBA5 NPHP3-ACAD11

Linked Data

• gnomAD v4: 3-132670555-CTAGATTATATTTCTGT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132670556_132670571del , CM000665.2:g.132670556_132670571del	GRCh38
NC_000003.11:g.132389400_132389415del , CM000665.1:g.132389400_132389415del	GRCh37
NC_000003.10:g.133872090_133872105del	NCBI36
NG_052968.1:g.21111_21126del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.665+272_665+287del (UBA5)	ENSP00000507396.1:n.665+272_665+287del
ENST00000356232.10:c.494+272_494+287del (UBA5) MANE Select	ENSP00000348565.4:n.494+272_494+287del
ENST00000264991.8:c.326+272_326+287del (UBA5)	ENSP00000264991.4:n.326+272_326+287del
ENST00000356232.8:c.494+272_494+287del (UBA5)	ENSP00000348565.4:n.494+272_494+287del
ENST00000464068.5:c.224+272_224+287del (UBA5)	ENSP00000420055.1:n.224+272_224+287del
ENST00000468227.5:n.1757+272_1757+287del (UBA5)
ENST00000471702.2:c.*1980+11343_*1980+11358del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+11343_*1980+11358del
ENST00000473651.5:c.494+272_494+287del (UBA5)	ENSP00000424984.1:n.494+272_494+287del
ENST00000493720.6:c.494+272_494+287del (UBA5)	ENSP00000417879.2:n.494+272_494+287del
ENST00000494238.6:c.326+272_326+287del (UBA5)	ENSP00000418807.2:n.326+272_326+287del
ENST00000505777.5:c.*163+272_*163+287del (UBA5)	ENSP00000427233.1:n.*163+272_*163+287del
ENST00000632629.1:c.636+11343_636+11358del (NPHP3-ACAD11)
NM_024818.3:c.494+272_494+287del (UBA5)	NP_079094.1:n.494+272_494+287del
NM_198329.2:c.326+272_326+287del (UBA5)	NP_938143.1:n.326+272_326+287del
NR_037804.1:n.3995+11343_3995+11358del (NPHP3-ACAD11)
XM_006713752.2:c.158+272_158+287del (UBA5)	XP_006713815.1:n.158+272_158+287del
XM_011513183.1:c.353+272_353+287del (UBA5)	XP_011511485.1:n.353+272_353+287del
XM_011513184.1:c.326+272_326+287del (UBA5)	XP_011511486.1:n.326+272_326+287del
XM_011513185.1:c.224+272_224+287del (UBA5)	XP_011511487.1:n.224+272_224+287del
NM_001320210.1:c.326+272_326+287del (UBA5)	NP_001307139.1:n.326+272_326+287del
NM_001321238.1:c.224+272_224+287del (UBA5)	NP_001308167.1:n.224+272_224+287del
NM_001321239.1:c.158+272_158+287del (UBA5)	NP_001308168.1:n.158+272_158+287del
NM_024818.4:c.494+272_494+287del (UBA5)	NP_079094.1:n.494+272_494+287del
NM_198329.3:c.326+272_326+287del (UBA5)	NP_938143.1:n.326+272_326+287del
XR_001740272.1:n.1096+272_1096+287del (UBA5)
NM_024818.5:c.494+272_494+287del (UBA5)	NP_079094.1:n.494+272_494+287del
NM_001320210.2:c.326+272_326+287del (UBA5)	NP_001307139.1:n.326+272_326+287del
NM_001321238.2:c.224+272_224+287del (UBA5)	NP_001308167.1:n.224+272_224+287del
NM_024818.6:c.494+272_494+287del (UBA5) MANE Select	NP_079094.1:n.494+272_494+287del
NM_198329.4:c.326+272_326+287del (UBA5)	NP_938143.1:n.326+272_326+287del