Canonical Allele Identifier: CA2623298545

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2866615
• ClinVar RCV Id: RCV003648628
• gnomAD v4: 13-76996000-T-TCC

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76996003_76996004dup , CM000675.2:g.76996003_76996004dup	GRCh38
NC_000013.10:g.77570138_77570139dup , CM000675.1:g.77570138_77570139dup	GRCh37
NC_000013.9:g.76468139_76468140dup	NCBI36
NG_009064.1:g.9080_9081dup , LRG_692:g.9080_9081dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.441_442dup (CLN5) MANE Select	ENSP00000366673.5:p.His148ProfsTer?
ENST00000485938.4:c.441_442dup (CLN5)	ENSP00000482959.3:p.His148ProfsTer?
ENST00000616833.6:c.441_442dup (CLN5)	ENSP00000479547.3:p.His148ProfsTer?
ENST00000635838.1:c.50_51dup
ENST00000635905.1:n.442_443dup (CLN5)
ENST00000635915.1:c.439_440dup (CLN5)
ENST00000635989.1:n.508_509dup (CLN5)
ENST00000636183.2:c.441_442dup (CLN5)	ENSP00000490181.2:p.His148ProfsTer?
ENST00000636520.1:n.1953_1954dup (CLN5)
ENST00000636525.2:c.441_442dup (CLN5)	ENSP00000490078.2:p.His148ProfsTer?
ENST00000636602.1:n.387_388dup (CLN5)
ENST00000636681.1:c.*132_*133dup (CLN5)	ENSP00000489922.1:n.*132_*133dup
ENST00000636705.1:c.277_278dup (CLN5)
ENST00000636767.2:c.441_442dup (CLN5)	ENSP00000489855.2:p.His148ProfsTer?
ENST00000636780.2:c.441_442dup (CLN5)	ENSP00000489809.2:p.His148ProfsTer?
ENST00000637192.1:c.89_90dup
ENST00000637278.1:n.767_768dup (CLN5)
ENST00000637397.2:c.441_442dup (CLN5)	ENSP00000490422.2:p.His148ProfsTer?
ENST00000637537.2:c.441_442dup (CLN5)	ENSP00000489711.2:p.His148ProfsTer?
ENST00000638101.1:c.45_46dup	ENSP00000490535.1:p.His16ProfsTer?
ENST00000638147.2:c.441_442dup	ENSP00000490953.2:p.His148ProfsTer?
ENST00000377453.7:c.588_589dup (CLN5)	ENSP00000366673.3:p.His197ProfsTer?
ENST00000485797.2:n.174-3051_174-3050dup (FBXL3)
ENST00000485938.2:c.424_425dup (CLN5)
ENST00000616833.4:c.441_442dup (CLN5)	ENSP00000479547.1:p.His148ProfsTer?
NM_006493.2:c.588_589dup , LRG_692t1:c.588_589dup (CLN5)	NP_006484.1:p.His197ProfsTer?
XM_011534917.1:c.588_589dup (CLN5)	XP_011533219.1:p.His197ProfsTer?
NM_001366624.1:c.441_442dup (CLN5)	NP_001353553.1:p.His148ProfsTer?
NM_006493.3:c.441_442dup (CLN5)	NP_006484.2:p.His148ProfsTer?
XM_017020538.2:c.644-3051_644-3050dup (FBXL3)	XP_016876027.1:n.644-3051_644-3050dup
NM_001366624.2:c.441_442dup (CLN5)	NP_001353553.1:p.His148ProfsTer?
NM_006493.4:c.441_442dup (CLN5) MANE Select	NP_006484.2:p.His148ProfsTer?