Canonical Allele Identifier: CA2499222511

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1071340
• ClinVar RCV Id: RCV001383792
• dbSNP Id: rs2154035166

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000719_77000720del , CM000675.2:g.77000719_77000720del	GRCh38
NC_000013.10:g.77574854_77574855del , CM000675.1:g.77574854_77574855del	GRCh37
NC_000013.9:g.76472855_76472856del	NCBI36
NG_009064.1:g.13796_13797del , LRG_692:g.13796_13797del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.827_828del (CLN5) MANE Select	ENSP00000366673.5:p.Phe276TrpfsTer26
ENST00000616833.6:c.*269_*270del (CLN5)	ENSP00000479547.3:n.*269_*270del
ENST00000635838.1:c.174+4592_174+4593del
ENST00000635905.1:n.566+4592_566+4593del (CLN5)
ENST00000635915.1:c.825_826del (CLN5)
ENST00000636183.2:c.827_828del (CLN5)	ENSP00000490181.2:p.Phe276TrpfsTer26
ENST00000636525.2:c.565+4592_565+4593del (CLN5)	ENSP00000490078.2:n.565+4592_565+4593del
ENST00000636681.1:c.*518_*519del (CLN5)	ENSP00000489922.1:n.*518_*519del
ENST00000636705.1:c.663_664del (CLN5)
ENST00000636767.2:c.565+4592_565+4593del (CLN5)	ENSP00000489855.2:n.565+4592_565+4593del
ENST00000636780.2:c.*276_*277del (CLN5)	ENSP00000489809.2:n.*276_*277del
ENST00000637192.1:c.213+4592_213+4593del
ENST00000637278.1:n.1153_1154del (CLN5)
ENST00000637397.2:c.565+4592_565+4593del (CLN5)	ENSP00000490422.2:n.565+4592_565+4593del
ENST00000638101.1:c.169+4592_169+4593del	ENSP00000490535.1:n.169+4592_169+4593del
ENST00000638147.2:c.565+4592_565+4593del	ENSP00000490953.2:n.565+4592_565+4593del
ENST00000377453.7:c.974_975del (CLN5)	ENSP00000366673.3:p.Phe325TrpfsTer26
ENST00000477982.2:n.1592_1593del (FBXL3)
ENST00000485797.2:n.174-7766_174-7765del (FBXL3)
ENST00000616833.4:c.827_828del (CLN5)	ENSP00000479547.1:p.Phe276TrpfsTer26
NM_006493.2:c.974_975del , LRG_692t1:c.974_975del (CLN5)	NP_006484.1:p.Phe325TrpfsTer26
XM_011534917.1:c.*276_*277del (CLN5)	XP_011533219.1:n.*276_*277del
NM_001366624.1:c.*276_*277del (CLN5)	NP_001353553.1:n.*276_*277del
NM_006493.3:c.827_828del (CLN5)	NP_006484.2:p.Phe276TrpfsTer26
XM_017020538.2:c.644-7766_644-7765del (FBXL3)	XP_016876027.1:n.644-7766_644-7765del
NM_001366624.2:c.*276_*277del (CLN5)	NP_001353553.1:n.*276_*277del
NM_006493.4:c.827_828del (CLN5) MANE Select	NP_006484.2:p.Phe276TrpfsTer26