Canonical Allele Identifier: CA2695199767

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2680831
• ClinVar RCV Id: RCV003468471

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996036del , CM000675.2:g.76996036del	GRCh38
NC_000013.10:g.77570171del , CM000675.1:g.77570171del	GRCh37
NC_000013.9:g.76468172del	NCBI36
NG_009064.1:g.9113del , LRG_692:g.9113del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.474del (CLN5) MANE Select	ENSP00000366673.5:p.Trp158CysfsTer24
ENST00000485938.4:c.474del (CLN5)	ENSP00000482959.3:p.Trp158CysfsTer24
ENST00000616833.6:c.474del (CLN5)	ENSP00000479547.3:p.Trp158CysfsTer24
ENST00000635838.1:c.83del
ENST00000635905.1:n.475del (CLN5)
ENST00000635915.1:c.472del (CLN5)
ENST00000635989.1:n.541del (CLN5)
ENST00000636183.2:c.474del (CLN5)	ENSP00000490181.2:p.Trp158CysfsTer24
ENST00000636520.1:n.1986del (CLN5)
ENST00000636525.2:c.474del (CLN5)	ENSP00000490078.2:p.Trp158CysfsTer24
ENST00000636602.1:n.420del (CLN5)
ENST00000636681.1:c.*165del (CLN5)	ENSP00000489922.1:n.*165del
ENST00000636705.1:c.310del (CLN5)
ENST00000636767.2:c.474del (CLN5)	ENSP00000489855.2:p.Trp158CysfsTer24
ENST00000636780.2:c.474del (CLN5)	ENSP00000489809.2:p.Trp158CysfsTer24
ENST00000637192.1:c.122del
ENST00000637278.1:n.800del (CLN5)
ENST00000637397.2:c.474del (CLN5)	ENSP00000490422.2:p.Trp158CysfsTer24
ENST00000637537.2:c.474del (CLN5)	ENSP00000489711.2:p.Trp158CysfsTer24
ENST00000638101.1:c.78del	ENSP00000490535.1:p.Trp26CysfsTer24
ENST00000638147.2:c.474del	ENSP00000490953.2:p.Trp158CysfsTer24
ENST00000377453.7:c.621del (CLN5)	ENSP00000366673.3:p.Trp207CysfsTer24
ENST00000485797.2:n.174-3084del (FBXL3)
ENST00000485938.2:c.457del (CLN5)
ENST00000616833.4:c.474del (CLN5)	ENSP00000479547.1:p.Trp158CysfsTer24
NM_006493.2:c.621del , LRG_692t1:c.621del (CLN5)	NP_006484.1:p.Trp207CysfsTer24
XM_011534917.1:c.621del (CLN5)	XP_011533219.1:p.Trp207CysfsTer24
NM_001366624.1:c.474del (CLN5)	NP_001353553.1:p.Trp158CysfsTer24
NM_006493.3:c.474del (CLN5)	NP_006484.2:p.Trp158CysfsTer24
XM_017020538.2:c.644-3084del (FBXL3)	XP_016876027.1:n.644-3084del
NM_001366624.2:c.474del (CLN5)	NP_001353553.1:p.Trp158CysfsTer24
NM_006493.4:c.474del (CLN5) MANE Select	NP_006484.2:p.Trp158CysfsTer24