Canonical Allele Identifier: CA2799793453

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996200_76996201insAGG , CM000675.2:g.76996200_76996201insAGG	GRCh38
NC_000013.10:g.77570335_77570336insAGG , CM000675.1:g.77570335_77570336insAGG	GRCh37
NC_000013.9:g.76468336_76468337insAGG	NCBI36
NG_009064.1:g.9277_9278insAGG , LRG_692:g.9277_9278insAGG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+73_565+74insAGG (CLN5) MANE Select	ENSP00000366673.5:n.565+73_565+74insAGG
ENST00000485938.4:c.*62_*63insAGG (CLN5)	ENSP00000482959.3:n.*62_*63insAGG
ENST00000616833.6:c.565+73_565+74insAGG (CLN5)	ENSP00000479547.3:n.565+73_565+74insAGG
ENST00000635838.1:c.174+73_174+74insAGG
ENST00000635905.1:n.566+73_566+74insAGG (CLN5)
ENST00000635915.1:c.563+73_563+74insAGG (CLN5)
ENST00000636183.2:c.565+73_565+74insAGG (CLN5)	ENSP00000490181.2:n.565+73_565+74insAGG
ENST00000636520.1:n.2150_2151insAGG (CLN5)
ENST00000636525.2:c.565+73_565+74insAGG (CLN5)	ENSP00000490078.2:n.565+73_565+74insAGG
ENST00000636602.1:n.584_585insAGG (CLN5)
ENST00000636681.1:c.*256+73_*256+74insAGG (CLN5)	ENSP00000489922.1:n.*256+73_*256+74insAGG
ENST00000636705.1:c.401+73_401+74insAGG (CLN5)
ENST00000636767.2:c.565+73_565+74insAGG (CLN5)	ENSP00000489855.2:n.565+73_565+74insAGG
ENST00000636780.2:c.565+73_565+74insAGG (CLN5)	ENSP00000489809.2:n.565+73_565+74insAGG
ENST00000637192.1:c.213+73_213+74insAGG
ENST00000637278.1:n.891+73_891+74insAGG (CLN5)
ENST00000637397.2:c.565+73_565+74insAGG (CLN5)	ENSP00000490422.2:n.565+73_565+74insAGG
ENST00000637537.2:c.565+73_565+74insAGG (CLN5)	ENSP00000489711.2:n.565+73_565+74insAGG
ENST00000638101.1:c.169+73_169+74insAGG	ENSP00000490535.1:n.169+73_169+74insAGG
ENST00000638147.2:c.565+73_565+74insAGG	ENSP00000490953.2:n.565+73_565+74insAGG
ENST00000377453.7:c.712+73_712+74insAGG (CLN5)	ENSP00000366673.3:n.712+73_712+74insAGG
ENST00000485797.2:n.174-3250_174-3249insCCT (FBXL3)
ENST00000485938.2:c.621_622insAGG (CLN5)
ENST00000616833.4:c.565+73_565+74insAGG (CLN5)	ENSP00000479547.1:n.565+73_565+74insAGG
NM_006493.2:c.712+73_712+74insAGG , LRG_692t1:c.712+73_712+74insAGG (CLN5)	NP_006484.1:n.712+73_712+74insAGG
XM_011534917.1:c.712+73_712+74insAGG (CLN5)	XP_011533219.1:n.712+73_712+74insAGG
NM_001366624.1:c.565+73_565+74insAGG (CLN5)	NP_001353553.1:n.565+73_565+74insAGG
NM_006493.3:c.565+73_565+74insAGG (CLN5)	NP_006484.2:n.565+73_565+74insAGG
XM_017020538.2:c.644-3250_644-3249insCCT (FBXL3)	XP_016876027.1:n.644-3250_644-3249insCCT
NM_001366624.2:c.565+73_565+74insAGG (CLN5)	NP_001353553.1:n.565+73_565+74insAGG
NM_006493.4:c.565+73_565+74insAGG (CLN5) MANE Select	NP_006484.2:n.565+73_565+74insAGG