Canonical Allele Identifier: CA2623303590

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000394-AAAAAAAAAATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000397_77000407del , CM000675.2:g.77000397_77000407del	GRCh38
NC_000013.10:g.77574532_77574542del , CM000675.1:g.77574532_77574542del	GRCh37
NC_000013.9:g.76472533_76472543del	NCBI36
NG_009064.1:g.13474_13484del , LRG_692:g.13474_13484del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-61_566-51del (CLN5) MANE Select	ENSP00000366673.5:n.566-61_566-51del
ENST00000616833.6:c.*8-61_*8-51del (CLN5)	ENSP00000479547.3:n.*8-61_*8-51del
ENST00000635838.1:c.174+4270_174+4280del
ENST00000635905.1:n.566+4270_566+4280del (CLN5)
ENST00000635915.1:c.564-61_564-51del (CLN5)
ENST00000636183.2:c.566-61_566-51del (CLN5)	ENSP00000490181.2:n.566-61_566-51del
ENST00000636525.2:c.565+4270_565+4280del (CLN5)	ENSP00000490078.2:n.565+4270_565+4280del
ENST00000636681.1:c.*257-61_*257-51del (CLN5)	ENSP00000489922.1:n.*257-61_*257-51del
ENST00000636705.1:c.402-61_402-51del (CLN5)
ENST00000636767.2:c.565+4270_565+4280del (CLN5)	ENSP00000489855.2:n.565+4270_565+4280del
ENST00000636780.2:c.*15-61_*15-51del (CLN5)	ENSP00000489809.2:n.*15-61_*15-51del
ENST00000637192.1:c.213+4270_213+4280del
ENST00000637278.1:n.892-61_892-51del (CLN5)
ENST00000637397.2:c.565+4270_565+4280del (CLN5)	ENSP00000490422.2:n.565+4270_565+4280del
ENST00000638101.1:c.169+4270_169+4280del	ENSP00000490535.1:n.169+4270_169+4280del
ENST00000638147.2:c.565+4270_565+4280del	ENSP00000490953.2:n.565+4270_565+4280del
ENST00000377453.7:c.713-61_713-51del (CLN5)	ENSP00000366673.3:n.713-61_713-51del
ENST00000477982.2:n.1904_1914del (FBXL3)
ENST00000485797.2:n.174-7454_174-7444del (FBXL3)
ENST00000616833.4:c.566-61_566-51del (CLN5)	ENSP00000479547.1:n.566-61_566-51del
NM_006493.2:c.713-61_713-51del , LRG_692t1:c.713-61_713-51del (CLN5)	NP_006484.1:n.713-61_713-51del
XM_011534917.1:c.*15-61_*15-51del (CLN5)	XP_011533219.1:n.*15-61_*15-51del
NM_001366624.1:c.*15-61_*15-51del (CLN5)	NP_001353553.1:n.*15-61_*15-51del
NM_006493.3:c.566-61_566-51del (CLN5)	NP_006484.2:n.566-61_566-51del
XM_017020538.2:c.644-7454_644-7444del (FBXL3)	XP_016876027.1:n.644-7454_644-7444del
NM_001366624.2:c.*15-61_*15-51del (CLN5)	NP_001353553.1:n.*15-61_*15-51del
NM_006493.4:c.566-61_566-51del (CLN5) MANE Select	NP_006484.2:n.566-61_566-51del