Canonical Allele Identifier: CA1402622993

Gene: UBA5 NPHP3-ACAD11

Linked Data

• dbSNP Id: rs1938350186
• gnomAD v4: 3-132665756-ATGTC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132665758_132665761del , CM000665.2:g.132665758_132665761del	GRCh38
NC_000003.11:g.132384602_132384605del , CM000665.1:g.132384602_132384605del	GRCh37
NC_000003.10:g.133867292_133867295del	NCBI36
NG_052968.1:g.16313_16316del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.333-65_333-62del (UBA5)	ENSP00000507396.1:n.333-65_333-62del
ENST00000356232.10:c.162-65_162-62del (UBA5) MANE Select	ENSP00000348565.4:n.162-65_162-62del
ENST00000264991.8:c.-7-65_-7-62del (UBA5)	ENSP00000264991.4:n.-7-65_-7-62del
ENST00000356232.8:c.162-65_162-62del (UBA5)	ENSP00000348565.4:n.162-65_162-62del
ENST00000464068.5:c.28-3060_28-3057del (UBA5)	ENSP00000420055.1:n.28-3060_28-3057del
ENST00000464101.2:n.357-65_357-62del (UBA5)
ENST00000468022.5:c.-7-65_-7-62del (UBA5)	ENSP00000418569.1:n.-7-65_-7-62del
ENST00000471702.2:c.*1980+16154_*1980+16157del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+16154_*1980+16157del
ENST00000473651.5:c.162-65_162-62del (UBA5)	ENSP00000424984.1:n.162-65_162-62del
ENST00000489361.1:c.-72_-69del (UBA5)	ENSP00000417905.1:n.-72_-69del
ENST00000493720.6:c.162-65_162-62del (UBA5)	ENSP00000417879.2:n.162-65_162-62del
ENST00000494238.6:c.-7-65_-7-62del (UBA5)	ENSP00000418807.2:n.-7-65_-7-62del
ENST00000505777.5:c.162-3060_162-3057del (UBA5)	ENSP00000427233.1:n.162-3060_162-3057del
ENST00000632629.1:c.636+16154_636+16157del (NPHP3-ACAD11)
NM_024818.3:c.162-65_162-62del (UBA5)	NP_079094.1:n.162-65_162-62del
NM_198329.2:c.-7-65_-7-62del (UBA5)	NP_938143.1:n.-7-65_-7-62del
NR_037804.1:n.3995+16154_3995+16157del (NPHP3-ACAD11)
XM_006713752.2:c.-39-3060_-39-3057del (UBA5)	XP_006713815.1:n.-39-3060_-39-3057del
XM_011513184.1:c.-7-65_-7-62del (UBA5)	XP_011511486.1:n.-7-65_-7-62del
XM_011513185.1:c.28-3060_28-3057del (UBA5)	XP_011511487.1:n.28-3060_28-3057del
NM_001320210.1:c.-7-65_-7-62del (UBA5)	NP_001307139.1:n.-7-65_-7-62del
NM_001321238.1:c.28-3060_28-3057del (UBA5)	NP_001308167.1:n.28-3060_28-3057del
NM_001321239.1:c.-39-3060_-39-3057del (UBA5)	NP_001308168.1:n.-39-3060_-39-3057del
NM_024818.4:c.162-65_162-62del (UBA5)	NP_079094.1:n.162-65_162-62del
NM_198329.3:c.-7-65_-7-62del (UBA5)	NP_938143.1:n.-7-65_-7-62del
XR_001740272.1:n.764-65_764-62del (UBA5)
NM_024818.5:c.162-65_162-62del (UBA5)	NP_079094.1:n.162-65_162-62del
NM_001320210.2:c.-7-65_-7-62del (UBA5)	NP_001307139.1:n.-7-65_-7-62del
NM_001321238.2:c.28-3060_28-3057del (UBA5)	NP_001308167.1:n.28-3060_28-3057del
NM_024818.6:c.162-65_162-62del (UBA5) MANE Select	NP_079094.1:n.162-65_162-62del
NM_198329.4:c.-7-65_-7-62del (UBA5)	NP_938143.1:n.-7-65_-7-62del