Canonical Allele Identifier: CA2799793479

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996237_76996238insAG , CM000675.2:g.76996237_76996238insAG	GRCh38
NC_000013.10:g.77570372_77570373insAG , CM000675.1:g.77570372_77570373insAG	GRCh37
NC_000013.9:g.76468373_76468374insAG	NCBI36
NG_009064.1:g.9314_9315insAG , LRG_692:g.9314_9315insAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+110_565+111insAG (CLN5) MANE Select	ENSP00000366673.5:n.565+110_565+111insAG
ENST00000485938.4:c.*99_*100insAG (CLN5)	ENSP00000482959.3:n.*99_*100insAG
ENST00000616833.6:c.565+110_565+111insAG (CLN5)	ENSP00000479547.3:n.565+110_565+111insAG
ENST00000635838.1:c.174+110_174+111insAG
ENST00000635905.1:n.566+110_566+111insAG (CLN5)
ENST00000635915.1:c.563+110_563+111insAG (CLN5)
ENST00000636183.2:c.565+110_565+111insAG (CLN5)	ENSP00000490181.2:n.565+110_565+111insAG
ENST00000636520.1:n.2187_2188insAG (CLN5)
ENST00000636525.2:c.565+110_565+111insAG (CLN5)	ENSP00000490078.2:n.565+110_565+111insAG
ENST00000636602.1:n.621_622insAG (CLN5)
ENST00000636681.1:c.*256+110_*256+111insAG (CLN5)	ENSP00000489922.1:n.*256+110_*256+111insAG
ENST00000636705.1:c.401+110_401+111insAG (CLN5)
ENST00000636767.2:c.565+110_565+111insAG (CLN5)	ENSP00000489855.2:n.565+110_565+111insAG
ENST00000636780.2:c.565+110_565+111insAG (CLN5)	ENSP00000489809.2:n.565+110_565+111insAG
ENST00000637192.1:c.213+110_213+111insAG
ENST00000637278.1:n.891+110_891+111insAG (CLN5)
ENST00000637397.2:c.565+110_565+111insAG (CLN5)	ENSP00000490422.2:n.565+110_565+111insAG
ENST00000637537.2:c.565+110_565+111insAG (CLN5)	ENSP00000489711.2:n.565+110_565+111insAG
ENST00000638101.1:c.169+110_169+111insAG	ENSP00000490535.1:n.169+110_169+111insAG
ENST00000638147.2:c.565+110_565+111insAG	ENSP00000490953.2:n.565+110_565+111insAG
ENST00000377453.7:c.712+110_712+111insAG (CLN5)	ENSP00000366673.3:n.712+110_712+111insAG
ENST00000485797.2:n.174-3287_174-3286insCT (FBXL3)
ENST00000485938.2:c.658_659insAG (CLN5)
ENST00000616833.4:c.565+110_565+111insAG (CLN5)	ENSP00000479547.1:n.565+110_565+111insAG
NM_006493.2:c.712+110_712+111insAG , LRG_692t1:c.712+110_712+111insAG (CLN5)	NP_006484.1:n.712+110_712+111insAG
XM_011534917.1:c.712+110_712+111insAG (CLN5)	XP_011533219.1:n.712+110_712+111insAG
NM_001366624.1:c.565+110_565+111insAG (CLN5)	NP_001353553.1:n.565+110_565+111insAG
NM_006493.3:c.565+110_565+111insAG (CLN5)	NP_006484.2:n.565+110_565+111insAG
XM_017020538.2:c.644-3287_644-3286insCT (FBXL3)	XP_016876027.1:n.644-3287_644-3286insCT
NM_001366624.2:c.565+110_565+111insAG (CLN5)	NP_001353553.1:n.565+110_565+111insAG
NM_006493.4:c.565+110_565+111insAG (CLN5) MANE Select	NP_006484.2:n.565+110_565+111insAG