Canonical Allele Identifier: CA484486509

Gene: CLN5 FBXL3

Linked Data

• COSMIC: COSM1629162
• MyVariant Identifiers: chr13:g.77570119_77570120insT (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.76995985dup , CM000675.2:g.76995985dup	GRCh38
NC_000013.10:g.77570120dup , CM000675.1:g.77570120dup	GRCh37
NC_000013.9:g.76468121dup	NCBI36
NG_009064.1:g.9062dup , LRG_692:g.9062dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377453.9:c.423dup (CLN5) MANE Select	ENSP00000366673.5:p.Gly142TrpfsTer11
ENST00000485938.4:c.423dup (CLN5)	ENSP00000482959.3:p.Gly142TrpfsTer11
ENST00000616833.6:c.423dup (CLN5)	ENSP00000479547.3:p.Gly142TrpfsTer11
ENST00000635838.1:c.32dup
ENST00000635905.1:n.424dup (CLN5)
ENST00000635915.1:c.421dup (CLN5)
ENST00000635989.1:n.490dup (CLN5)
ENST00000636183.2:c.423dup (CLN5)	ENSP00000490181.2:p.Gly142TrpfsTer11
ENST00000636520.1:n.1935dup (CLN5)
ENST00000636525.2:c.423dup (CLN5)	ENSP00000490078.2:p.Gly142TrpfsTer11
ENST00000636602.1:n.369dup (CLN5)
ENST00000636681.1:c.*114dup (CLN5)	ENSP00000489922.1:n.*114dup
ENST00000636705.1:c.259dup (CLN5)
ENST00000636767.2:c.423dup (CLN5)	ENSP00000489855.2:p.Gly142TrpfsTer11
ENST00000636780.2:c.423dup (CLN5)	ENSP00000489809.2:p.Gly142TrpfsTer11
ENST00000637192.1:c.71dup
ENST00000637278.1:n.749dup (CLN5)
ENST00000637397.2:c.423dup (CLN5)	ENSP00000490422.2:p.Gly142TrpfsTer11
ENST00000637537.2:c.423dup (CLN5)	ENSP00000489711.2:p.Gly142TrpfsTer11
ENST00000638101.1:c.27dup	ENSP00000490535.1:p.Gly10TrpfsTer11
ENST00000638147.2:c.423dup	ENSP00000490953.2:p.Gly142TrpfsTer11
ENST00000377453.7:c.570dup (CLN5)	ENSP00000366673.3:p.Gly191TrpfsTer11
ENST00000485797.2:n.174-3033dup (FBXL3)
ENST00000485938.2:c.406dup (CLN5)
ENST00000616833.4:c.423dup (CLN5)	ENSP00000479547.1:p.Gly142TrpfsTer11
NM_006493.2:c.570dup , LRG_692t1:c.570dup (CLN5)	NP_006484.1:p.Gly191TrpfsTer11
XM_011534917.1:c.570dup (CLN5)	XP_011533219.1:p.Gly191TrpfsTer11
NM_001366624.1:c.423dup (CLN5)	NP_001353553.1:p.Gly142TrpfsTer11
NM_006493.3:c.423dup (CLN5)	NP_006484.2:p.Gly142TrpfsTer11
XM_017020538.2:c.644-3033dup (FBXL3)	XP_016876027.1:n.644-3033dup
NM_001366624.2:c.423dup (CLN5)	NP_001353553.1:p.Gly142TrpfsTer11
NM_006493.4:c.423dup (CLN5) MANE Select	NP_006484.2:p.Gly142TrpfsTer11