Canonical Allele Identifier: CA2573149756

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1452241
• ClinVar RCV Id: RCV001994504
• dbSNP Id: rs2154035131

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000571del , CM000675.2:g.77000571del	GRCh38
NC_000013.10:g.77574706del , CM000675.1:g.77574706del	GRCh37
NC_000013.9:g.76472707del	NCBI36
NG_009064.1:g.13648del , LRG_692:g.13648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.679del (CLN5) MANE Select	ENSP00000366673.5:p.Asp227IlefsTer10
ENST00000616833.6:c.*121del (CLN5)	ENSP00000479547.3:n.*121del
ENST00000635838.1:c.174+4444del
ENST00000635905.1:n.566+4444del (CLN5)
ENST00000635915.1:c.677del (CLN5)
ENST00000636183.2:c.679del (CLN5)	ENSP00000490181.2:p.Asp227IlefsTer10
ENST00000636525.2:c.565+4444del (CLN5)	ENSP00000490078.2:n.565+4444del
ENST00000636681.1:c.*370del (CLN5)	ENSP00000489922.1:n.*370del
ENST00000636705.1:c.515del (CLN5)
ENST00000636767.2:c.565+4444del (CLN5)	ENSP00000489855.2:n.565+4444del
ENST00000636780.2:c.*128del (CLN5)	ENSP00000489809.2:n.*128del
ENST00000637192.1:c.213+4444del
ENST00000637278.1:n.1005del (CLN5)
ENST00000637397.2:c.565+4444del (CLN5)	ENSP00000490422.2:n.565+4444del
ENST00000638101.1:c.169+4444del	ENSP00000490535.1:n.169+4444del
ENST00000638147.2:c.565+4444del	ENSP00000490953.2:n.565+4444del
ENST00000377453.7:c.826del (CLN5)	ENSP00000366673.3:p.Asp276IlefsTer10
ENST00000477982.2:n.1738del (FBXL3)
ENST00000485797.2:n.174-7620del (FBXL3)
ENST00000616833.4:c.679del (CLN5)	ENSP00000479547.1:p.Asp227IlefsTer10
NM_006493.2:c.826del , LRG_692t1:c.826del (CLN5)	NP_006484.1:p.Asp276IlefsTer10
XM_011534917.1:c.*128del (CLN5)	XP_011533219.1:n.*128del
NM_001366624.1:c.*128del (CLN5)	NP_001353553.1:n.*128del
NM_006493.3:c.679del (CLN5)	NP_006484.2:p.Asp227IlefsTer10
XM_017020538.2:c.644-7620del (FBXL3)	XP_016876027.1:n.644-7620del
NM_001366624.2:c.*128del (CLN5)	NP_001353553.1:n.*128del
NM_006493.4:c.679del (CLN5) MANE Select	NP_006484.2:p.Asp227IlefsTer10