Canonical Allele Identifier: CA2103436953

Gene: CLN5 FBXL3

Linked Data

• dbSNP Id: rs2034352876

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77001002_77001005dup , CM000675.2:g.77001002_77001005dup	GRCh38
NC_000013.10:g.77575137_77575140dup , CM000675.1:g.77575137_77575140dup	GRCh37
NC_000013.9:g.76473138_76473141dup	NCBI36
NG_009064.1:g.14079_14082dup , LRG_692:g.14079_14082dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.*33_*36dup (CLN5) MANE Select	ENSP00000366673.5:n.*33_*36dup
ENST00000616833.6:c.*552_*555dup (CLN5)	ENSP00000479547.3:n.*552_*555dup
ENST00000635838.1:c.174+4875_174+4878dup
ENST00000635905.1:n.566+4875_566+4878dup (CLN5)
ENST00000635915.1:c.1108_1111dup (CLN5)
ENST00000636183.2:c.*33_*36dup (CLN5)	ENSP00000490181.2:n.*33_*36dup
ENST00000636525.2:c.565+4875_565+4878dup (CLN5)	ENSP00000490078.2:n.565+4875_565+4878dup
ENST00000636681.1:c.*801_*804dup (CLN5)	ENSP00000489922.1:n.*801_*804dup
ENST00000636705.1:c.946_949dup (CLN5)
ENST00000636767.2:c.565+4875_565+4878dup (CLN5)	ENSP00000489855.2:n.565+4875_565+4878dup
ENST00000636780.2:c.*559_*562dup (CLN5)	ENSP00000489809.2:n.*559_*562dup
ENST00000637192.1:c.213+4875_213+4878dup
ENST00000637278.1:n.1436_1439dup (CLN5)
ENST00000637397.2:c.565+4875_565+4878dup (CLN5)	ENSP00000490422.2:n.565+4875_565+4878dup
ENST00000638101.1:c.169+4875_169+4878dup	ENSP00000490535.1:n.169+4875_169+4878dup
ENST00000638147.2:c.565+4875_565+4878dup	ENSP00000490953.2:n.565+4875_565+4878dup
ENST00000377453.7:c.*33_*36dup (CLN5)	ENSP00000366673.3:n.*33_*36dup
ENST00000477982.2:n.1306_1309dup (FBXL3)
ENST00000485797.2:n.174-8052_174-8049dup (FBXL3)
ENST00000616833.4:c.*33_*36dup (CLN5)	ENSP00000479547.1:n.*33_*36dup
NM_006493.2:c.*33_*36dup , LRG_692t1:c.*33_*36dup (CLN5)	NP_006484.1:n.*33_*36dup
NM_001366624.1:c.*559_*562dup (CLN5)	NP_001353553.1:n.*559_*562dup
NM_006493.3:c.*33_*36dup (CLN5)	NP_006484.2:n.*33_*36dup
XM_017020538.2:c.644-8052_644-8049dup (FBXL3)	XP_016876027.1:n.644-8052_644-8049dup
NM_001366624.2:c.*559_*562dup (CLN5)	NP_001353553.1:n.*559_*562dup
NM_006493.4:c.*33_*36dup (CLN5) MANE Select	NP_006484.2:n.*33_*36dup