Canonical Allele Identifier: CA2799793718

Gene: CLN5 FBXL3

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000873_77000875del , CM000675.2:g.77000873_77000875del	GRCh38
NC_000013.10:g.77575008_77575010del , CM000675.1:g.77575008_77575010del	GRCh37
NC_000013.9:g.76473009_76473011del	NCBI36
NG_009064.1:g.13950_13952del , LRG_692:g.13950_13952del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.981_983del (CLN5) MANE Select	ENSP00000366673.5:p.Phe327_Glu328delinsLeu
ENST00000616833.6:c.*423_*425del (CLN5)	ENSP00000479547.3:n.*423_*425del
ENST00000635838.1:c.174+4746_174+4748del
ENST00000635905.1:n.566+4746_566+4748del (CLN5)
ENST00000635915.1:c.979_981del (CLN5)
ENST00000636183.2:c.981_983del (CLN5)	ENSP00000490181.2:p.Phe327_Glu328delinsLeu
ENST00000636525.2:c.565+4746_565+4748del (CLN5)	ENSP00000490078.2:n.565+4746_565+4748del
ENST00000636681.1:c.*672_*674del (CLN5)	ENSP00000489922.1:n.*672_*674del
ENST00000636705.1:c.817_819del (CLN5)
ENST00000636767.2:c.565+4746_565+4748del (CLN5)	ENSP00000489855.2:n.565+4746_565+4748del
ENST00000636780.2:c.*430_*432del (CLN5)	ENSP00000489809.2:n.*430_*432del
ENST00000637192.1:c.213+4746_213+4748del
ENST00000637278.1:n.1307_1309del (CLN5)
ENST00000637397.2:c.565+4746_565+4748del (CLN5)	ENSP00000490422.2:n.565+4746_565+4748del
ENST00000638101.1:c.169+4746_169+4748del	ENSP00000490535.1:n.169+4746_169+4748del
ENST00000638147.2:c.565+4746_565+4748del	ENSP00000490953.2:n.565+4746_565+4748del
ENST00000377453.7:c.1128_1130del (CLN5)	ENSP00000366673.3:p.Phe376_Glu377delinsLeu
ENST00000477982.2:n.1434_1436del (FBXL3)
ENST00000485797.2:n.174-7924_174-7922del (FBXL3)
ENST00000616833.4:c.981_983del (CLN5)	ENSP00000479547.1:p.Phe327_Glu328delinsLeu
NM_006493.2:c.1128_1130del , LRG_692t1:c.1128_1130del (CLN5)	NP_006484.1:p.Phe376_Glu377delinsLeu
NM_001366624.1:c.*430_*432del (CLN5)	NP_001353553.1:n.*430_*432del
NM_006493.3:c.981_983del (CLN5)	NP_006484.2:p.Phe327_Glu328delinsLeu
XM_017020538.2:c.644-7924_644-7922del (FBXL3)	XP_016876027.1:n.644-7924_644-7922del
NM_001366624.2:c.*430_*432del (CLN5)	NP_001353553.1:n.*430_*432del
NM_006493.4:c.981_983del (CLN5) MANE Select	NP_006484.2:p.Phe327_Glu328delinsLeu