Canonical Allele Identifier: CA2623304583

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000780-ACC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000781_77000782del , CM000675.2:g.77000781_77000782del	GRCh38
NC_000013.10:g.77574916_77574917del , CM000675.1:g.77574916_77574917del	GRCh37
NC_000013.9:g.76472917_76472918del	NCBI36
NG_009064.1:g.13858_13859del , LRG_692:g.13858_13859del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.889_890del (CLN5) MANE Select	ENSP00000366673.5:p.Pro297ThrfsTer5
ENST00000616833.6:c.*331_*332del (CLN5)	ENSP00000479547.3:n.*331_*332del
ENST00000635838.1:c.174+4654_174+4655del
ENST00000635905.1:n.566+4654_566+4655del (CLN5)
ENST00000635915.1:c.887_888del (CLN5)
ENST00000636183.2:c.889_890del (CLN5)	ENSP00000490181.2:p.Pro297ThrfsTer5
ENST00000636525.2:c.565+4654_565+4655del (CLN5)	ENSP00000490078.2:n.565+4654_565+4655del
ENST00000636681.1:c.*580_*581del (CLN5)	ENSP00000489922.1:n.*580_*581del
ENST00000636705.1:c.725_726del (CLN5)
ENST00000636767.2:c.565+4654_565+4655del (CLN5)	ENSP00000489855.2:n.565+4654_565+4655del
ENST00000636780.2:c.*338_*339del (CLN5)	ENSP00000489809.2:n.*338_*339del
ENST00000637192.1:c.213+4654_213+4655del
ENST00000637278.1:n.1215_1216del (CLN5)
ENST00000637397.2:c.565+4654_565+4655del (CLN5)	ENSP00000490422.2:n.565+4654_565+4655del
ENST00000638101.1:c.169+4654_169+4655del	ENSP00000490535.1:n.169+4654_169+4655del
ENST00000638147.2:c.565+4654_565+4655del	ENSP00000490953.2:n.565+4654_565+4655del
ENST00000377453.7:c.1036_1037del (CLN5)	ENSP00000366673.3:p.Pro346ThrfsTer5
ENST00000477982.2:n.1527_1528del (FBXL3)
ENST00000485797.2:n.174-7831_174-7830del (FBXL3)
ENST00000616833.4:c.889_890del (CLN5)	ENSP00000479547.1:p.Pro297ThrfsTer5
NM_006493.2:c.1036_1037del , LRG_692t1:c.1036_1037del (CLN5)	NP_006484.1:p.Pro346ThrfsTer5
XM_011534917.1:c.*338_*339del (CLN5)	XP_011533219.1:n.*338_*339del
NM_001366624.1:c.*338_*339del (CLN5)	NP_001353553.1:n.*338_*339del
NM_006493.3:c.889_890del (CLN5)	NP_006484.2:p.Pro297ThrfsTer5
XM_017020538.2:c.644-7831_644-7830del (FBXL3)	XP_016876027.1:n.644-7831_644-7830del
NM_001366624.2:c.*338_*339del (CLN5)	NP_001353553.1:n.*338_*339del
NM_006493.4:c.889_890del (CLN5) MANE Select	NP_006484.2:p.Pro297ThrfsTer5