Canonical Allele Identifier: CA2623303138

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000227-ATT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000228_77000229del , CM000675.2:g.77000228_77000229del	GRCh38
NC_000013.10:g.77574363_77574364del , CM000675.1:g.77574363_77574364del	GRCh37
NC_000013.9:g.76472364_76472365del	NCBI36
NG_009064.1:g.13305_13306del , LRG_692:g.13305_13306del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-230_566-229del (CLN5) MANE Select	ENSP00000366673.5:n.566-230_566-229del
ENST00000616833.6:c.*8-230_*8-229del (CLN5)	ENSP00000479547.3:n.*8-230_*8-229del
ENST00000635761.1:n.394_395del (CLN5)
ENST00000635838.1:c.174+4101_174+4102del
ENST00000635905.1:n.566+4101_566+4102del (CLN5)
ENST00000635915.1:c.564-230_564-229del (CLN5)
ENST00000636183.2:c.566-230_566-229del (CLN5)	ENSP00000490181.2:n.566-230_566-229del
ENST00000636525.2:c.565+4101_565+4102del (CLN5)	ENSP00000490078.2:n.565+4101_565+4102del
ENST00000636681.1:c.*257-230_*257-229del (CLN5)	ENSP00000489922.1:n.*257-230_*257-229del
ENST00000636705.1:c.402-230_402-229del (CLN5)
ENST00000636767.2:c.565+4101_565+4102del (CLN5)	ENSP00000489855.2:n.565+4101_565+4102del
ENST00000636780.2:c.*15-230_*15-229del (CLN5)	ENSP00000489809.2:n.*15-230_*15-229del
ENST00000637192.1:c.213+4101_213+4102del
ENST00000637278.1:n.892-230_892-229del (CLN5)
ENST00000637397.2:c.565+4101_565+4102del (CLN5)	ENSP00000490422.2:n.565+4101_565+4102del
ENST00000638101.1:c.169+4101_169+4102del	ENSP00000490535.1:n.169+4101_169+4102del
ENST00000638147.2:c.565+4101_565+4102del	ENSP00000490953.2:n.565+4101_565+4102del
ENST00000377453.7:c.713-230_713-229del (CLN5)	ENSP00000366673.3:n.713-230_713-229del
ENST00000477982.2:n.2080_2081del (FBXL3)
ENST00000485797.2:n.174-7278_174-7277del (FBXL3)
ENST00000616833.4:c.566-230_566-229del (CLN5)	ENSP00000479547.1:n.566-230_566-229del
NM_006493.2:c.713-230_713-229del , LRG_692t1:c.713-230_713-229del (CLN5)	NP_006484.1:n.713-230_713-229del
XM_011534917.1:c.*15-230_*15-229del (CLN5)	XP_011533219.1:n.*15-230_*15-229del
NM_001366624.1:c.*15-230_*15-229del (CLN5)	NP_001353553.1:n.*15-230_*15-229del
NM_006493.3:c.566-230_566-229del (CLN5)	NP_006484.2:n.566-230_566-229del
XM_017020538.2:c.644-7278_644-7277del (FBXL3)	XP_016876027.1:n.644-7278_644-7277del
NM_001366624.2:c.*15-230_*15-229del (CLN5)	NP_001353553.1:n.*15-230_*15-229del
NM_006493.4:c.566-230_566-229del (CLN5) MANE Select	NP_006484.2:n.566-230_566-229del