Canonical Allele Identifier: CA2799793497

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996268_76996269insA , CM000675.2:g.76996268_76996269insA	GRCh38
NC_000013.10:g.77570403_77570404insA , CM000675.1:g.77570403_77570404insA	GRCh37
NC_000013.9:g.76468404_76468405insA	NCBI36
NG_009064.1:g.9345_9346insA , LRG_692:g.9345_9346insA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+141_565+142insA (CLN5) MANE Select	ENSP00000366673.5:n.565+141_565+142insA
ENST00000485938.4:c.*130_*131insA (CLN5)	ENSP00000482959.3:n.*130_*131insA
ENST00000616833.6:c.565+141_565+142insA (CLN5)	ENSP00000479547.3:n.565+141_565+142insA
ENST00000635838.1:c.174+141_174+142insA
ENST00000635905.1:n.566+141_566+142insA (CLN5)
ENST00000635915.1:c.563+141_563+142insA (CLN5)
ENST00000636183.2:c.565+141_565+142insA (CLN5)	ENSP00000490181.2:n.565+141_565+142insA
ENST00000636520.1:n.2218_2219insA (CLN5)
ENST00000636525.2:c.565+141_565+142insA (CLN5)	ENSP00000490078.2:n.565+141_565+142insA
ENST00000636602.1:n.652_653insA (CLN5)
ENST00000636681.1:c.*256+141_*256+142insA (CLN5)	ENSP00000489922.1:n.*256+141_*256+142insA
ENST00000636705.1:c.401+141_401+142insA (CLN5)
ENST00000636767.2:c.565+141_565+142insA (CLN5)	ENSP00000489855.2:n.565+141_565+142insA
ENST00000636780.2:c.565+141_565+142insA (CLN5)	ENSP00000489809.2:n.565+141_565+142insA
ENST00000637192.1:c.213+141_213+142insA
ENST00000637278.1:n.891+141_891+142insA (CLN5)
ENST00000637397.2:c.565+141_565+142insA (CLN5)	ENSP00000490422.2:n.565+141_565+142insA
ENST00000637537.2:c.565+141_565+142insA (CLN5)	ENSP00000489711.2:n.565+141_565+142insA
ENST00000638101.1:c.169+141_169+142insA	ENSP00000490535.1:n.169+141_169+142insA
ENST00000638147.2:c.565+141_565+142insA	ENSP00000490953.2:n.565+141_565+142insA
ENST00000377453.7:c.712+141_712+142insA (CLN5)	ENSP00000366673.3:n.712+141_712+142insA
ENST00000485797.2:n.174-3318_174-3317insT (FBXL3)
ENST00000485938.2:c.689_690insA (CLN5)
ENST00000616833.4:c.565+141_565+142insA (CLN5)	ENSP00000479547.1:n.565+141_565+142insA
NM_006493.2:c.712+141_712+142insA , LRG_692t1:c.712+141_712+142insA (CLN5)	NP_006484.1:n.712+141_712+142insA
XM_011534917.1:c.712+141_712+142insA (CLN5)	XP_011533219.1:n.712+141_712+142insA
NM_001366624.1:c.565+141_565+142insA (CLN5)	NP_001353553.1:n.565+141_565+142insA
NM_006493.3:c.565+141_565+142insA (CLN5)	NP_006484.2:n.565+141_565+142insA
XM_017020538.2:c.644-3318_644-3317insT (FBXL3)	XP_016876027.1:n.644-3318_644-3317insT
NM_001366624.2:c.565+141_565+142insA (CLN5)	NP_001353553.1:n.565+141_565+142insA
NM_006493.4:c.565+141_565+142insA (CLN5) MANE Select	NP_006484.2:n.565+141_565+142insA