Canonical Allele Identifier: CA2623303054

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000208-CAAATTAAAAAAAAGAA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000220_77000235del , CM000675.2:g.77000220_77000235del	GRCh38
NC_000013.10:g.77574355_77574370del , CM000675.1:g.77574355_77574370del	GRCh37
NC_000013.9:g.76472356_76472371del	NCBI36
NG_009064.1:g.13297_13312del , LRG_692:g.13297_13312del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.566-238_566-223del (CLN5) MANE Select	ENSP00000366673.5:n.566-238_566-223del
ENST00000616833.6:c.*7+225_*8-223del (CLN5)	ENSP00000479547.3:n.*7+225_*8-223del
ENST00000635761.1:n.386_401del (CLN5)
ENST00000635838.1:c.174+4093_174+4108del
ENST00000635905.1:n.566+4093_566+4108del (CLN5)
ENST00000635915.1:c.564-238_564-223del (CLN5)
ENST00000636183.2:c.566-238_566-223del (CLN5)	ENSP00000490181.2:n.566-238_566-223del
ENST00000636525.2:c.565+4093_565+4108del (CLN5)	ENSP00000490078.2:n.565+4093_565+4108del
ENST00000636681.1:c.*257-238_*257-223del (CLN5)	ENSP00000489922.1:n.*257-238_*257-223del
ENST00000636705.1:c.402-238_402-223del (CLN5)
ENST00000636767.2:c.565+4093_565+4108del (CLN5)	ENSP00000489855.2:n.565+4093_565+4108del
ENST00000636780.2:c.*15-238_*15-223del (CLN5)	ENSP00000489809.2:n.*15-238_*15-223del
ENST00000637192.1:c.213+4093_213+4108del
ENST00000637278.1:n.892-238_892-223del (CLN5)
ENST00000637397.2:c.565+4093_565+4108del (CLN5)	ENSP00000490422.2:n.565+4093_565+4108del
ENST00000638101.1:c.169+4093_169+4108del	ENSP00000490535.1:n.169+4093_169+4108del
ENST00000638147.2:c.565+4093_565+4108del	ENSP00000490953.2:n.565+4093_565+4108del
ENST00000377453.7:c.713-238_713-223del (CLN5)	ENSP00000366673.3:n.713-238_713-223del
ENST00000477982.2:n.2085_2100del (FBXL3)
ENST00000485797.2:n.174-7273_174-7258del (FBXL3)
ENST00000616833.4:c.566-238_566-223del (CLN5)	ENSP00000479547.1:n.566-238_566-223del
NM_006493.2:c.713-238_713-223del , LRG_692t1:c.713-238_713-223del (CLN5)	NP_006484.1:n.713-238_713-223del
XM_011534917.1:c.*15-238_*15-223del (CLN5)	XP_011533219.1:n.*15-238_*15-223del
NM_001366624.1:c.*15-238_*15-223del (CLN5)	NP_001353553.1:n.*15-238_*15-223del
NM_006493.3:c.566-238_566-223del (CLN5)	NP_006484.2:n.566-238_566-223del
XM_017020538.2:c.644-7273_644-7258del (FBXL3)	XP_016876027.1:n.644-7273_644-7258del
NM_001366624.2:c.*15-238_*15-223del (CLN5)	NP_001353553.1:n.*15-238_*15-223del
NM_006493.4:c.566-238_566-223del (CLN5) MANE Select	NP_006484.2:n.566-238_566-223del