Canonical Allele Identifier: CA1053647618

Gene: UBA5 NPHP3-ACAD11

Linked Data

• gnomAD v3: 3-132675912-ATTCC-A
• gnomAD v4: 3-132675912-ATTCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132675913_132675916del , CM000665.2:g.132675913_132675916del	GRCh38
NC_000003.11:g.132394757_132394760del , CM000665.1:g.132394757_132394760del	GRCh37
NC_000003.10:g.133877447_133877450del	NCBI36
NG_052968.1:g.26468_26471del

Transcript Alleles

HGVS	Amino-acid change
ENST00000683741.1:c.1292_1295del (UBA5)	ENSP00000507396.1:p.Ile431LysfsTer11
ENST00000356232.10:c.1121_1124del (UBA5) MANE Select	ENSP00000348565.4:p.Ile374LysfsTer11
ENST00000264991.8:c.953_956del (UBA5)	ENSP00000264991.4:p.Ile318LysfsTer11
ENST00000356232.8:c.1121_1124del (UBA5)	ENSP00000348565.4:p.Ile374LysfsTer11
ENST00000468227.5:n.2552_2555del (UBA5)
ENST00000471702.2:c.*1980+5998_*1980+6001del (NPHP3-ACAD11)	ENSP00000419763.1:n.*1980+5998_*1980+6001del
ENST00000473651.5:c.1024+233_1024+236del (UBA5)	ENSP00000424984.1:n.1024+233_1024+236del
ENST00000493720.6:c.1121_1124del (UBA5)	ENSP00000417879.2:p.Ile374LysfsTer?
ENST00000494112.1:n.396_399del (UBA5)
ENST00000494238.6:c.953_956del (UBA5)	ENSP00000418807.2:p.Ile318LysfsTer11
ENST00000632629.1:c.636+5998_636+6001del (NPHP3-ACAD11)
NM_024818.3:c.1121_1124del (UBA5)	NP_079094.1:p.Ile374LysfsTer11
NM_198329.2:c.953_956del (UBA5)	NP_938143.1:p.Ile318LysfsTer11
NR_037804.1:n.3995+5998_3995+6001del (NPHP3-ACAD11)
XM_006713752.2:c.785_788del (UBA5)	XP_006713815.1:p.Ile262LysfsTer11
XM_011513183.1:c.980_983del (UBA5)	XP_011511485.1:p.Ile327LysfsTer11
XM_011513184.1:c.953_956del (UBA5)	XP_011511486.1:p.Ile318LysfsTer11
XM_011513185.1:c.851_854del (UBA5)	XP_011511487.1:p.Ile284LysfsTer11
NM_001320210.1:c.953_956del (UBA5)	NP_001307139.1:p.Ile318LysfsTer11
NM_001321238.1:c.851_854del (UBA5)	NP_001308167.1:p.Ile284LysfsTer11
NM_001321239.1:c.785_788del (UBA5)	NP_001308168.1:p.Ile262LysfsTer11
NM_024818.4:c.1121_1124del (UBA5)	NP_079094.1:p.Ile374LysfsTer11
NM_198329.3:c.953_956del (UBA5)	NP_938143.1:p.Ile318LysfsTer11
XR_001740272.1:n.1587_1590del (UBA5)
NM_024818.5:c.1121_1124del (UBA5)	NP_079094.1:p.Ile374LysfsTer11
NM_001320210.2:c.953_956del (UBA5)	NP_001307139.1:p.Ile318LysfsTer11
NM_001321238.2:c.851_854del (UBA5)	NP_001308167.1:p.Ile284LysfsTer11
NM_024818.6:c.1121_1124del (UBA5) MANE Select	NP_079094.1:p.Ile374LysfsTer11
NM_198329.4:c.953_956del (UBA5)	NP_938143.1:p.Ile318LysfsTer11