Canonical Allele Identifier: CA2799793450

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996194_76996195insACT , CM000675.2:g.76996194_76996195insACT	GRCh38
NC_000013.10:g.77570329_77570330insACT , CM000675.1:g.77570329_77570330insACT	GRCh37
NC_000013.9:g.76468330_76468331insACT	NCBI36
NG_009064.1:g.9271_9272insACT , LRG_692:g.9271_9272insACT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+67_565+68insACT (CLN5) MANE Select	ENSP00000366673.5:n.565+67_565+68insACT
ENST00000485938.4:c.*56_*57insACT (CLN5)	ENSP00000482959.3:n.*56_*57insACT
ENST00000616833.6:c.565+67_565+68insACT (CLN5)	ENSP00000479547.3:n.565+67_565+68insACT
ENST00000635838.1:c.174+67_174+68insACT
ENST00000635905.1:n.566+67_566+68insACT (CLN5)
ENST00000635915.1:c.563+67_563+68insACT (CLN5)
ENST00000636183.2:c.565+67_565+68insACT (CLN5)	ENSP00000490181.2:n.565+67_565+68insACT
ENST00000636520.1:n.2144_2145insACT (CLN5)
ENST00000636525.2:c.565+67_565+68insACT (CLN5)	ENSP00000490078.2:n.565+67_565+68insACT
ENST00000636602.1:n.578_579insACT (CLN5)
ENST00000636681.1:c.*256+67_*256+68insACT (CLN5)	ENSP00000489922.1:n.*256+67_*256+68insACT
ENST00000636705.1:c.401+67_401+68insACT (CLN5)
ENST00000636767.2:c.565+67_565+68insACT (CLN5)	ENSP00000489855.2:n.565+67_565+68insACT
ENST00000636780.2:c.565+67_565+68insACT (CLN5)	ENSP00000489809.2:n.565+67_565+68insACT
ENST00000637192.1:c.213+67_213+68insACT
ENST00000637278.1:n.891+67_891+68insACT (CLN5)
ENST00000637397.2:c.565+67_565+68insACT (CLN5)	ENSP00000490422.2:n.565+67_565+68insACT
ENST00000637537.2:c.565+67_565+68insACT (CLN5)	ENSP00000489711.2:n.565+67_565+68insACT
ENST00000638101.1:c.169+67_169+68insACT	ENSP00000490535.1:n.169+67_169+68insACT
ENST00000638147.2:c.565+67_565+68insACT	ENSP00000490953.2:n.565+67_565+68insACT
ENST00000377453.7:c.712+67_712+68insACT (CLN5)	ENSP00000366673.3:n.712+67_712+68insACT
ENST00000485797.2:n.174-3244_174-3243insAGT (FBXL3)
ENST00000485938.2:c.615_616insACT (CLN5)
ENST00000616833.4:c.565+67_565+68insACT (CLN5)	ENSP00000479547.1:n.565+67_565+68insACT
NM_006493.2:c.712+67_712+68insACT , LRG_692t1:c.712+67_712+68insACT (CLN5)	NP_006484.1:n.712+67_712+68insACT
XM_011534917.1:c.712+67_712+68insACT (CLN5)	XP_011533219.1:n.712+67_712+68insACT
NM_001366624.1:c.565+67_565+68insACT (CLN5)	NP_001353553.1:n.565+67_565+68insACT
NM_006493.3:c.565+67_565+68insACT (CLN5)	NP_006484.2:n.565+67_565+68insACT
XM_017020538.2:c.644-3244_644-3243insAGT (FBXL3)	XP_016876027.1:n.644-3244_644-3243insAGT
NM_001366624.2:c.565+67_565+68insACT (CLN5)	NP_001353553.1:n.565+67_565+68insACT
NM_006493.4:c.565+67_565+68insACT (CLN5) MANE Select	NP_006484.2:n.565+67_565+68insACT