Canonical Allele Identifier: CA891843755

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 577654
• ClinVar RCV Id: RCV000700461
• MyVariant Identifiers: chr13:g.77574593_77576652del (hg19) ; chr13:g.77000458_77002517del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000458_77002517del , CM000675.2:g.77000458_77002517del	GRCh38
NC_000013.10:g.77574593_77576652del , CM000675.1:g.77574593_77576652del	GRCh37
NC_000013.9:g.76472594_76474653del	NCBI36
NG_009064.1:g.13535_15594del , LRG_692:g.13535_15594del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.566_*1548del (CLN5) MANE Select	ENSP00000366673.5:n.[c.566_*1548del;Gly18...
ENST00000635838.1:c.174+4331_174+6390del
ENST00000635905.1:n.566+4331_567-6227del (CLN5)
ENST00000636183.2:c.566_*1548del (CLN5)	ENSP00000490181.2:n.[c.566_*1548del;Gly18...
ENST00000636525.2:c.565+4331_566-6227del (CLN5)	ENSP00000490078.2:n.565+4331_566-6227del
ENST00000636767.2:c.565+4331_566-6227del (CLN5)	ENSP00000489855.2:n.565+4331_566-6227del
ENST00000637192.1:c.213+4331_213+6390del
ENST00000637397.2:c.565+4331_566-6227del (CLN5)	ENSP00000490422.2:n.565+4331_566-6227del
ENST00000638101.1:c.169+4331_169+6390del	ENSP00000490535.1:n.169+4331_169+6390del
ENST00000638147.2:c.565+4331_565+6390del	ENSP00000490953.2:n.565+4331_565+6390del
ENST00000377453.7:c.713_*1548del (CLN5)	ENSP00000366673.3:n.[c.713_*1548del;Gly23...
ENST00000477982.2:n.260-468_1851del (FBXL3)
ENST00000485797.2:n.174-9566_174-7507del (FBXL3)
NM_006493.2:c.713_*1548del , LRG_692t1:c.713_*1548del (CLN5)	NP_006484.1:n.[c.713_*1548del;Gly238=]
NM_001366624.1:c.*15_*2074del (CLN5)	NP_001353553.1:n.*15_*2074del
NM_006493.3:c.566_*1548del (CLN5)	NP_006484.2:n.[c.566_*1548del;Gly189=]
XM_017020538.2:c.644-9566_644-7507del (FBXL3)	XP_016876027.1:n.644-9566_644-7507del
NM_001366624.2:c.*15_*2074del (CLN5)	NP_001353553.1:n.*15_*2074del
NM_006493.4:c.566_*1548del (CLN5) MANE Select	NP_006484.2:n.[c.566_*1548del;Gly189Valfs...