Canonical Allele Identifier: CA1402639670

Gene: UBA5 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1938796288
• gnomAD v4: 3-132675442-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675444_132675445del , CM000665.2:g.132675444_132675445del	GRCh38
NC_000003.11:g.132394288_132394289del , CM000665.1:g.132394288_132394289del	GRCh37
NC_000003.10:g.133876978_133876979del	NCBI36
NG_052968.1:g.25999_26000del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1119+61_1119+62del (UBA5)	ENSP00000507396.1:n.1119+61_1119+62del
ENST00000356232.10:c.948+61_948+62del (UBA5) MANE Select	ENSP00000348565.4:n.948+61_948+62del
ENST00000264991.8:c.780+61_780+62del (UBA5)	ENSP00000264991.4:n.780+61_780+62del
ENST00000356232.8:c.948+61_948+62del (UBA5)	ENSP00000348565.4:n.948+61_948+62del
ENST00000468227.5:n.2379+61_2379+62del (UBA5)
ENST00000471702.2:c.*1980+6470_*1980+6471del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+6470_*1980+6471del
ENST00000473651.5:c.948+61_948+62del (UBA5)	ENSP00000424984.1:n.948+61_948+62del
ENST00000493720.6:c.948+61_948+62del (UBA5)	ENSP00000417879.2:n.948+61_948+62del
ENST00000494112.1:n.63_64del (UBA5)
ENST00000494238.6:c.780+61_780+62del (UBA5)	ENSP00000418807.2:n.780+61_780+62del
ENST00000632629.1:c.636+6470_636+6471del (NPHP3-ACAD11)
NM_024818.3:c.948+61_948+62del (UBA5)	NP_079094.1:n.948+61_948+62del
NM_198329.2:c.780+61_780+62del (UBA5)	NP_938143.1:n.780+61_780+62del
NR_037804.1:n.3995+6470_3995+6471del (NPHP3-ACAD11)
XM_006713752.2:c.612+61_612+62del (UBA5)	XP_006713815.1:n.612+61_612+62del
XM_011513183.1:c.807+61_807+62del (UBA5)	XP_011511485.1:n.807+61_807+62del
XM_011513184.1:c.780+61_780+62del (UBA5)	XP_011511486.1:n.780+61_780+62del
XM_011513185.1:c.678+61_678+62del (UBA5)	XP_011511487.1:n.678+61_678+62del
NM_001320210.1:c.780+61_780+62del (UBA5)	NP_001307139.1:n.780+61_780+62del
NM_001321238.1:c.678+61_678+62del (UBA5)	NP_001308167.1:n.678+61_678+62del
NM_001321239.1:c.612+61_612+62del (UBA5)	NP_001308168.1:n.612+61_612+62del
NM_024818.4:c.948+61_948+62del (UBA5)	NP_079094.1:n.948+61_948+62del
NM_198329.3:c.780+61_780+62del (UBA5)	NP_938143.1:n.780+61_780+62del
XR_001740272.1:n.1415-161_1415-160del (UBA5)
NM_024818.5:c.948+61_948+62del (UBA5)	NP_079094.1:n.948+61_948+62del
NM_001320210.2:c.780+61_780+62del (UBA5)	NP_001307139.1:n.780+61_780+62del
NM_001321238.2:c.678+61_678+62del (UBA5)	NP_001308167.1:n.678+61_678+62del
NM_024818.6:c.948+61_948+62del (UBA5) MANE Select	NP_079094.1:n.948+61_948+62del
NM_198329.4:c.780+61_780+62del (UBA5)	NP_938143.1:n.780+61_780+62del