Canonical Allele Identifier: CA2017997733

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000652_77000839del , CM000675.2:g.77000652_77000839del	GRCh38
NC_000013.10:g.77574787_77574974del , CM000675.1:g.77574787_77574974del	GRCh37
NC_000013.9:g.76472788_76472975del	NCBI36
NG_009064.1:g.13729_13916del , LRG_692:g.13729_13916del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.760_947del (CLN5) MANE Select	ENSP00000366673.5:p.Thr254CysfsTer10
ENST00000616833.6:c.*202_*389del (CLN5)	ENSP00000479547.3:n.*202_*389del
ENST00000635838.1:c.174+4525_174+4712del
ENST00000635905.1:n.566+4525_566+4712del (CLN5)
ENST00000635915.1:c.758_945del (CLN5)
ENST00000636183.2:c.760_947del (CLN5)	ENSP00000490181.2:p.Thr254CysfsTer10
ENST00000636525.2:c.565+4525_565+4712del (CLN5)	ENSP00000490078.2:n.565+4525_565+4712del
ENST00000636681.1:c.*451_*638del (CLN5)	ENSP00000489922.1:n.*451_*638del
ENST00000636705.1:c.596_783del (CLN5)
ENST00000636767.2:c.565+4525_565+4712del (CLN5)	ENSP00000489855.2:n.565+4525_565+4712del
ENST00000636780.2:c.*209_*396del (CLN5)	ENSP00000489809.2:n.*209_*396del
ENST00000637192.1:c.213+4525_213+4712del
ENST00000637278.1:n.1086_1273del (CLN5)
ENST00000637397.2:c.565+4525_565+4712del (CLN5)	ENSP00000490422.2:n.565+4525_565+4712del
ENST00000638101.1:c.169+4525_169+4712del	ENSP00000490535.1:n.169+4525_169+4712del
ENST00000638147.2:c.565+4525_565+4712del	ENSP00000490953.2:n.565+4525_565+4712del
ENST00000377453.7:c.907_1094del (CLN5)	ENSP00000366673.3:p.Thr303CysfsTer10
ENST00000477982.2:n.1470_1657del (FBXL3)
ENST00000485797.2:n.174-7888_174-7701del (FBXL3)
ENST00000616833.4:c.760_947del (CLN5)	ENSP00000479547.1:p.Thr254CysfsTer10
NM_006493.2:c.907_1094del , LRG_692t1:c.907_1094del (CLN5)	NP_006484.1:p.Thr303CysfsTer10
NM_001366624.1:c.*209_*396del (CLN5)	NP_001353553.1:n.*209_*396del
NM_006493.3:c.760_947del (CLN5)	NP_006484.2:p.Thr254CysfsTer10
XM_017020538.2:c.644-7888_644-7701del (FBXL3)	XP_016876027.1:n.644-7888_644-7701del
NM_001366624.2:c.*209_*396del (CLN5)	NP_001353553.1:n.*209_*396del
NM_006493.4:c.760_947del (CLN5) MANE Select	NP_006484.2:p.Thr254CysfsTer10