Canonical Allele Identifier: CA2499222512

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 1210380
• ClinVar RCV Id: RCV001580667
• dbSNP Id: rs2154035202

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000873del , CM000675.2:g.77000873del	GRCh38
NC_000013.10:g.77575008del , CM000675.1:g.77575008del	GRCh37
NC_000013.9:g.76473009del	NCBI36
NG_009064.1:g.13950del , LRG_692:g.13950del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.981del (CLN5) MANE Select	ENSP00000366673.5:p.Phe327LeufsTer8
ENST00000616833.6:c.*423del (CLN5)	ENSP00000479547.3:n.*423del
ENST00000635838.1:c.174+4746del
ENST00000635905.1:n.566+4746del (CLN5)
ENST00000635915.1:c.979del (CLN5)
ENST00000636183.2:c.981del (CLN5)	ENSP00000490181.2:p.Phe327LeufsTer8
ENST00000636525.2:c.565+4746del (CLN5)	ENSP00000490078.2:n.565+4746del
ENST00000636681.1:c.*672del (CLN5)	ENSP00000489922.1:n.*672del
ENST00000636705.1:c.817del (CLN5)
ENST00000636767.2:c.565+4746del (CLN5)	ENSP00000489855.2:n.565+4746del
ENST00000636780.2:c.*430del (CLN5)	ENSP00000489809.2:n.*430del
ENST00000637192.1:c.213+4746del
ENST00000637278.1:n.1307del (CLN5)
ENST00000637397.2:c.565+4746del (CLN5)	ENSP00000490422.2:n.565+4746del
ENST00000638101.1:c.169+4746del	ENSP00000490535.1:n.169+4746del
ENST00000638147.2:c.565+4746del	ENSP00000490953.2:n.565+4746del
ENST00000377453.7:c.1128del (CLN5)	ENSP00000366673.3:p.Phe376LeufsTer8
ENST00000477982.2:n.1439del (FBXL3)
ENST00000485797.2:n.174-7919del (FBXL3)
ENST00000616833.4:c.981del (CLN5)	ENSP00000479547.1:p.Phe327LeufsTer8
NM_006493.2:c.1128del , LRG_692t1:c.1128del (CLN5)	NP_006484.1:p.Phe376LeufsTer8
NM_001366624.1:c.*430del (CLN5)	NP_001353553.1:n.*430del
NM_006493.3:c.981del (CLN5)	NP_006484.2:p.Phe327LeufsTer8
XM_017020538.2:c.644-7919del (FBXL3)	XP_016876027.1:n.644-7919del
NM_001366624.2:c.*430del (CLN5)	NP_001353553.1:n.*430del
NM_006493.4:c.981del (CLN5) MANE Select	NP_006484.2:p.Phe327LeufsTer8