Canonical Allele Identifier: CA2577904754

Gene: UBA5 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132665846_132665861del , CM000665.2:g.132665846_132665861del	GRCh38
NC_000003.11:g.132384690_132384705del , CM000665.1:g.132384690_132384705del	GRCh37
NC_000003.10:g.133867380_133867395del	NCBI36
NG_052968.1:g.16401_16416del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000683741.1:c.356_371del (UBA5)	ENSP00000507396.1:p.Met119ThrfsTer10
ENST00000356232.10:c.185_200del (UBA5) MANE Select	ENSP00000348565.4:p.Met62ThrfsTer10
ENST00000264991.8:c.17_32del (UBA5)	ENSP00000264991.4:p.Met6ThrfsTer10
ENST00000356232.8:c.185_200del (UBA5)	ENSP00000348565.4:p.Met62ThrfsTer10
ENST00000464068.5:c.28-2972_28-2957del (UBA5)	ENSP00000420055.1:n.28-2972_28-2957del
ENST00000464101.2:n.380_395del (UBA5)
ENST00000468022.5:c.17_32del (UBA5)	ENSP00000418569.1:p.Met6ThrfsTer10
ENST00000471702.2:c.*1980+16054_*1980+16069del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+16054_*1980+16069del
ENST00000473651.5:c.185_200del (UBA5)	ENSP00000424984.1:p.Met62ThrfsTer10
ENST00000489361.1:c.17_32del (UBA5)	ENSP00000417905.1:p.Met6ThrfsTer10
ENST00000493720.6:c.185_200del (UBA5)	ENSP00000417879.2:p.Met62ThrfsTer10
ENST00000494238.6:c.17_32del (UBA5)	ENSP00000418807.2:p.Met6ThrfsTer10
ENST00000505777.5:c.162-2972_162-2957del (UBA5)	ENSP00000427233.1:n.162-2972_162-2957del
ENST00000632629.1:c.636+16054_636+16069del (NPHP3-ACAD11)
NM_024818.3:c.185_200del (UBA5)	NP_079094.1:p.Met62ThrfsTer10
NM_198329.2:c.17_32del (UBA5)	NP_938143.1:p.Met6ThrfsTer10
NR_037804.1:n.3995+16054_3995+16069del (NPHP3-ACAD11)
XM_006713752.2:c.-39-2972_-39-2957del (UBA5)	XP_006713815.1:n.-39-2972_-39-2957del
XM_011513184.1:c.17_32del (UBA5)	XP_011511486.1:p.Met6ThrfsTer10
XM_011513185.1:c.28-2972_28-2957del (UBA5)	XP_011511487.1:n.28-2972_28-2957del
NM_001320210.1:c.17_32del (UBA5)	NP_001307139.1:p.Met6ThrfsTer10
NM_001321238.1:c.28-2972_28-2957del (UBA5)	NP_001308167.1:n.28-2972_28-2957del
NM_001321239.1:c.-39-2972_-39-2957del (UBA5)	NP_001308168.1:n.-39-2972_-39-2957del
NM_024818.4:c.185_200del (UBA5)	NP_079094.1:p.Met62ThrfsTer10
NM_198329.3:c.17_32del (UBA5)	NP_938143.1:p.Met6ThrfsTer10
XR_001740272.1:n.787_802del (UBA5)
NM_024818.5:c.185_200del (UBA5)	NP_079094.1:p.Met62ThrfsTer10
NM_001320210.2:c.17_32del (UBA5)	NP_001307139.1:p.Met6ThrfsTer10
NM_001321238.2:c.28-2972_28-2957del (UBA5)	NP_001308167.1:n.28-2972_28-2957del
NM_024818.6:c.185_200del (UBA5) MANE Select	NP_079094.1:p.Met62ThrfsTer10
NM_198329.4:c.17_32del (UBA5)	NP_938143.1:p.Met6ThrfsTer10