Canonical Allele Identifier: CA2799793488

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996250_76996251insAGA , CM000675.2:g.76996250_76996251insAGA	GRCh38
NC_000013.10:g.77570385_77570386insAGA , CM000675.1:g.77570385_77570386insAGA	GRCh37
NC_000013.9:g.76468386_76468387insAGA	NCBI36
NG_009064.1:g.9327_9328insAGA , LRG_692:g.9327_9328insAGA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+123_565+124insAGA (CLN5) MANE Select	ENSP00000366673.5:n.565+123_565+124insAGA
ENST00000485938.4:c.*112_*113insAGA (CLN5)	ENSP00000482959.3:n.*112_*113insAGA
ENST00000616833.6:c.565+123_565+124insAGA (CLN5)	ENSP00000479547.3:n.565+123_565+124insAGA
ENST00000635838.1:c.174+123_174+124insAGA
ENST00000635905.1:n.566+123_566+124insAGA (CLN5)
ENST00000635915.1:c.563+123_563+124insAGA (CLN5)
ENST00000636183.2:c.565+123_565+124insAGA (CLN5)	ENSP00000490181.2:n.565+123_565+124insAGA
ENST00000636520.1:n.2200_2201insAGA (CLN5)
ENST00000636525.2:c.565+123_565+124insAGA (CLN5)	ENSP00000490078.2:n.565+123_565+124insAGA
ENST00000636602.1:n.634_635insAGA (CLN5)
ENST00000636681.1:c.*256+123_*256+124insAGA (CLN5)	ENSP00000489922.1:n.*256+123_*256+124insAGA
ENST00000636705.1:c.401+123_401+124insAGA (CLN5)
ENST00000636767.2:c.565+123_565+124insAGA (CLN5)	ENSP00000489855.2:n.565+123_565+124insAGA
ENST00000636780.2:c.565+123_565+124insAGA (CLN5)	ENSP00000489809.2:n.565+123_565+124insAGA
ENST00000637192.1:c.213+123_213+124insAGA
ENST00000637278.1:n.891+123_891+124insAGA (CLN5)
ENST00000637397.2:c.565+123_565+124insAGA (CLN5)	ENSP00000490422.2:n.565+123_565+124insAGA
ENST00000637537.2:c.565+123_565+124insAGA (CLN5)	ENSP00000489711.2:n.565+123_565+124insAGA
ENST00000638101.1:c.169+123_169+124insAGA	ENSP00000490535.1:n.169+123_169+124insAGA
ENST00000638147.2:c.565+123_565+124insAGA	ENSP00000490953.2:n.565+123_565+124insAGA
ENST00000377453.7:c.712+123_712+124insAGA (CLN5)	ENSP00000366673.3:n.712+123_712+124insAGA
ENST00000485797.2:n.174-3300_174-3299insTCT (FBXL3)
ENST00000485938.2:c.671_672insAGA (CLN5)
ENST00000616833.4:c.565+123_565+124insAGA (CLN5)	ENSP00000479547.1:n.565+123_565+124insAGA
NM_006493.2:c.712+123_712+124insAGA , LRG_692t1:c.712+123_712+124insAGA (CLN5)	NP_006484.1:n.712+123_712+124insAGA
XM_011534917.1:c.712+123_712+124insAGA (CLN5)	XP_011533219.1:n.712+123_712+124insAGA
NM_001366624.1:c.565+123_565+124insAGA (CLN5)	NP_001353553.1:n.565+123_565+124insAGA
NM_006493.3:c.565+123_565+124insAGA (CLN5)	NP_006484.2:n.565+123_565+124insAGA
XM_017020538.2:c.644-3300_644-3299insTCT (FBXL3)	XP_016876027.1:n.644-3300_644-3299insTCT
NM_001366624.2:c.565+123_565+124insAGA (CLN5)	NP_001353553.1:n.565+123_565+124insAGA
NM_006493.4:c.565+123_565+124insAGA (CLN5) MANE Select	NP_006484.2:n.565+123_565+124insAGA