Canonical Allele Identifier: CA2623303618

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000402-AAT-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000403_77000404del , CM000675.2:g.77000403_77000404del	GRCh38
NC_000013.10:g.77574538_77574539del , CM000675.1:g.77574538_77574539del	GRCh37
NC_000013.9:g.76472539_76472540del	NCBI36
NG_009064.1:g.13480_13481del , LRG_692:g.13480_13481del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-55_566-54del (CLN5) MANE Select	ENSP00000366673.5:n.566-55_566-54del
ENST00000616833.6:c.*8-55_*8-54del (CLN5)	ENSP00000479547.3:n.*8-55_*8-54del
ENST00000635838.1:c.174+4276_174+4277del
ENST00000635905.1:n.566+4276_566+4277del (CLN5)
ENST00000635915.1:c.564-55_564-54del (CLN5)
ENST00000636183.2:c.566-55_566-54del (CLN5)	ENSP00000490181.2:n.566-55_566-54del
ENST00000636525.2:c.565+4276_565+4277del (CLN5)	ENSP00000490078.2:n.565+4276_565+4277del
ENST00000636681.1:c.*257-55_*257-54del (CLN5)	ENSP00000489922.1:n.*257-55_*257-54del
ENST00000636705.1:c.402-55_402-54del (CLN5)
ENST00000636767.2:c.565+4276_565+4277del (CLN5)	ENSP00000489855.2:n.565+4276_565+4277del
ENST00000636780.2:c.*15-55_*15-54del (CLN5)	ENSP00000489809.2:n.*15-55_*15-54del
ENST00000637192.1:c.213+4276_213+4277del
ENST00000637278.1:n.892-55_892-54del (CLN5)
ENST00000637397.2:c.565+4276_565+4277del (CLN5)	ENSP00000490422.2:n.565+4276_565+4277del
ENST00000638101.1:c.169+4276_169+4277del	ENSP00000490535.1:n.169+4276_169+4277del
ENST00000638147.2:c.565+4276_565+4277del	ENSP00000490953.2:n.565+4276_565+4277del
ENST00000377453.7:c.713-55_713-54del (CLN5)	ENSP00000366673.3:n.713-55_713-54del
ENST00000477982.2:n.1905_1906del (FBXL3)
ENST00000485797.2:n.174-7453_174-7452del (FBXL3)
ENST00000616833.4:c.566-55_566-54del (CLN5)	ENSP00000479547.1:n.566-55_566-54del
NM_006493.2:c.713-55_713-54del , LRG_692t1:c.713-55_713-54del (CLN5)	NP_006484.1:n.713-55_713-54del
XM_011534917.1:c.*15-55_*15-54del (CLN5)	XP_011533219.1:n.*15-55_*15-54del
NM_001366624.1:c.*15-55_*15-54del (CLN5)	NP_001353553.1:n.*15-55_*15-54del
NM_006493.3:c.566-55_566-54del (CLN5)	NP_006484.2:n.566-55_566-54del
XM_017020538.2:c.644-7453_644-7452del (FBXL3)	XP_016876027.1:n.644-7453_644-7452del
NM_001366624.2:c.*15-55_*15-54del (CLN5)	NP_001353553.1:n.*15-55_*15-54del
NM_006493.4:c.566-55_566-54del (CLN5) MANE Select	NP_006484.2:n.566-55_566-54del