Canonical Allele Identifier: CA2623304209

Gene: CLN5 FBXL3

Linked Data

• gnomAD v4: 13-77000649-G-GA

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000652dup , CM000675.2:g.77000652dup	GRCh38
NC_000013.10:g.77574787dup , CM000675.1:g.77574787dup	GRCh37
NC_000013.9:g.76472788dup	NCBI36
NG_009064.1:g.13729dup , LRG_692:g.13729dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.760dup (CLN5) MANE Select	ENSP00000366673.5:p.Thr254AsnfsTer19
ENST00000616833.6:c.*202dup (CLN5)	ENSP00000479547.3:n.*202dup
ENST00000635838.1:c.174+4525dup
ENST00000635905.1:n.566+4525dup (CLN5)
ENST00000635915.1:c.758dup (CLN5)
ENST00000636183.2:c.760dup (CLN5)	ENSP00000490181.2:p.Thr254AsnfsTer19
ENST00000636525.2:c.565+4525dup (CLN5)	ENSP00000490078.2:n.565+4525dup
ENST00000636681.1:c.*451dup (CLN5)	ENSP00000489922.1:n.*451dup
ENST00000636705.1:c.596dup (CLN5)
ENST00000636767.2:c.565+4525dup (CLN5)	ENSP00000489855.2:n.565+4525dup
ENST00000636780.2:c.*209dup (CLN5)	ENSP00000489809.2:n.*209dup
ENST00000637192.1:c.213+4525dup
ENST00000637278.1:n.1086dup (CLN5)
ENST00000637397.2:c.565+4525dup (CLN5)	ENSP00000490422.2:n.565+4525dup
ENST00000638101.1:c.169+4525dup	ENSP00000490535.1:n.169+4525dup
ENST00000638147.2:c.565+4525dup	ENSP00000490953.2:n.565+4525dup
ENST00000377453.7:c.907dup (CLN5)	ENSP00000366673.3:p.Thr303AsnfsTer19
ENST00000477982.2:n.1659dup (FBXL3)
ENST00000485797.2:n.174-7699dup (FBXL3)
ENST00000616833.4:c.760dup (CLN5)	ENSP00000479547.1:p.Thr254AsnfsTer19
NM_006493.2:c.907dup , LRG_692t1:c.907dup (CLN5)	NP_006484.1:p.Thr303AsnfsTer19
XM_011534917.1:c.*209dup (CLN5)	XP_011533219.1:n.*209dup
NM_001366624.1:c.*209dup (CLN5)	NP_001353553.1:n.*209dup
NM_006493.3:c.760dup (CLN5)	NP_006484.2:p.Thr254AsnfsTer19
XM_017020538.2:c.644-7699dup (FBXL3)	XP_016876027.1:n.644-7699dup
NM_001366624.2:c.*209dup (CLN5)	NP_001353553.1:n.*209dup
NM_006493.4:c.760dup (CLN5) MANE Select	NP_006484.2:p.Thr254AsnfsTer19