Canonical Allele Identifier: CA2623299133

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-76996286-CTTATTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996287_76996292del , CM000675.2:g.76996287_76996292del	GRCh38
NC_000013.10:g.77570422_77570427del , CM000675.1:g.77570422_77570427del	GRCh37
NC_000013.9:g.76468423_76468428del	NCBI36
NG_009064.1:g.9364_9369del , LRG_692:g.9364_9369del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.565+160_565+165del (CLN5) MANE Select	ENSP00000366673.5:n.565+160_565+165del
ENST00000485938.4:c.*149_*154del (CLN5)	ENSP00000482959.3:n.*149_*154del
ENST00000616833.6:c.565+160_565+165del (CLN5)	ENSP00000479547.3:n.565+160_565+165del
ENST00000635838.1:c.174+160_174+165del
ENST00000635905.1:n.566+160_566+165del (CLN5)
ENST00000635915.1:c.563+160_563+165del (CLN5)
ENST00000636183.2:c.565+160_565+165del (CLN5)	ENSP00000490181.2:n.565+160_565+165del
ENST00000636520.1:n.2237_2242del (CLN5)
ENST00000636525.2:c.565+160_565+165del (CLN5)	ENSP00000490078.2:n.565+160_565+165del
ENST00000636681.1:c.*256+160_*256+165del (CLN5)	ENSP00000489922.1:n.*256+160_*256+165del
ENST00000636705.1:c.401+160_401+165del (CLN5)
ENST00000636767.2:c.565+160_565+165del (CLN5)	ENSP00000489855.2:n.565+160_565+165del
ENST00000636780.2:c.565+160_565+165del (CLN5)	ENSP00000489809.2:n.565+160_565+165del
ENST00000637192.1:c.213+160_213+165del
ENST00000637278.1:n.891+160_891+165del (CLN5)
ENST00000637397.2:c.565+160_565+165del (CLN5)	ENSP00000490422.2:n.565+160_565+165del
ENST00000637537.2:c.565+160_565+165del (CLN5)	ENSP00000489711.2:n.565+160_565+165del
ENST00000638101.1:c.169+160_169+165del	ENSP00000490535.1:n.169+160_169+165del
ENST00000638147.2:c.565+160_565+165del	ENSP00000490953.2:n.565+160_565+165del
ENST00000377453.7:c.712+160_712+165del (CLN5)	ENSP00000366673.3:n.712+160_712+165del
ENST00000485797.2:n.174-3341_174-3336del (FBXL3)
ENST00000616833.4:c.565+160_565+165del (CLN5)	ENSP00000479547.1:n.565+160_565+165del
NM_006493.2:c.712+160_712+165del , LRG_692t1:c.712+160_712+165del (CLN5)	NP_006484.1:n.712+160_712+165del
XM_011534917.1:c.712+160_712+165del (CLN5)	XP_011533219.1:n.712+160_712+165del
NM_001366624.1:c.565+160_565+165del (CLN5)	NP_001353553.1:n.565+160_565+165del
NM_006493.3:c.565+160_565+165del (CLN5)	NP_006484.2:n.565+160_565+165del
XM_017020538.2:c.644-3341_644-3336del (FBXL3)	XP_016876027.1:n.644-3341_644-3336del
NM_001366624.2:c.565+160_565+165del (CLN5)	NP_001353553.1:n.565+160_565+165del
NM_006493.4:c.565+160_565+165del (CLN5) MANE Select	NP_006484.2:n.565+160_565+165del