Canonical Allele Identifier: CA899006240

Gene: UBA5 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1328323245
• MyVariant Identifiers: chr3:g.132389741_132389744del (hg19) ; chr3:g.132670897_132670900del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132670902_132670905del , CM000665.2:g.132670902_132670905del	GRCh38
NC_000003.11:g.132389746_132389749del , CM000665.1:g.132389746_132389749del	GRCh37
NC_000003.10:g.133872436_133872439del	NCBI36
NG_052968.1:g.21457_21460del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.666-63_666-60del (UBA5)	ENSP00000507396.1:n.666-63_666-60del
ENST00000356232.10:c.495-63_495-60del (UBA5) MANE Select	ENSP00000348565.4:n.495-63_495-60del
ENST00000264991.8:c.327-63_327-60del (UBA5)	ENSP00000264991.4:n.327-63_327-60del
ENST00000356232.8:c.495-63_495-60del (UBA5)	ENSP00000348565.4:n.495-63_495-60del
ENST00000464068.5:c.225-63_225-60del (UBA5)	ENSP00000420055.1:n.225-63_225-60del
ENST00000468227.5:n.1758-63_1758-60del (UBA5)
ENST00000469158.1:n.221_224del (UBA5)
ENST00000471702.2:c.*1980+11014_*1980+11017del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+11014_*1980+11017del
ENST00000473651.5:c.495-63_495-60del (UBA5)	ENSP00000424984.1:n.495-63_495-60del
ENST00000493720.6:c.495-63_495-60del (UBA5)	ENSP00000417879.2:n.495-63_495-60del
ENST00000494238.6:c.327-63_327-60del (UBA5)	ENSP00000418807.2:n.327-63_327-60del
ENST00000505777.5:c.*164-63_*164-60del (UBA5)	ENSP00000427233.1:n.*164-63_*164-60del
ENST00000632629.1:c.636+11014_636+11017del (NPHP3-ACAD11)
NM_024818.3:c.495-63_495-60del (UBA5)	NP_079094.1:n.495-63_495-60del
NM_198329.2:c.327-63_327-60del (UBA5)	NP_938143.1:n.327-63_327-60del
NR_037804.1:n.3995+11014_3995+11017del (NPHP3-ACAD11)
XM_006713752.2:c.159-63_159-60del (UBA5)	XP_006713815.1:n.159-63_159-60del
XM_011513183.1:c.354-63_354-60del (UBA5)	XP_011511485.1:n.354-63_354-60del
XM_011513184.1:c.327-63_327-60del (UBA5)	XP_011511486.1:n.327-63_327-60del
XM_011513185.1:c.225-63_225-60del (UBA5)	XP_011511487.1:n.225-63_225-60del
NM_001320210.1:c.327-63_327-60del (UBA5)	NP_001307139.1:n.327-63_327-60del
NM_001321238.1:c.225-63_225-60del (UBA5)	NP_001308167.1:n.225-63_225-60del
NM_001321239.1:c.159-63_159-60del (UBA5)	NP_001308168.1:n.159-63_159-60del
NM_024818.4:c.495-63_495-60del (UBA5)	NP_079094.1:n.495-63_495-60del
NM_198329.3:c.327-63_327-60del (UBA5)	NP_938143.1:n.327-63_327-60del
XR_001740272.1:n.1097-63_1097-60del (UBA5)
NM_024818.5:c.495-63_495-60del (UBA5)	NP_079094.1:n.495-63_495-60del
NM_001320210.2:c.327-63_327-60del (UBA5)	NP_001307139.1:n.327-63_327-60del
NM_001321238.2:c.225-63_225-60del (UBA5)	NP_001308167.1:n.225-63_225-60del
NM_024818.6:c.495-63_495-60del (UBA5) MANE Select	NP_079094.1:n.495-63_495-60del
NM_198329.4:c.327-63_327-60del (UBA5)	NP_938143.1:n.327-63_327-60del