Canonical Allele Identifier: CA252342

Gene: CLN5 FBXL3

Linked Data

• ClinVar Variation Id: 2571
• ClinVar RCV Id: RCV000002680
• dbSNP Id: rs1555274312
• MyVariant Identifiers: chr13:g.77574551_77575150del (hg19) ; chr13:g.77000416_77001015del (hg38)
• PubMed: PMID:20157158

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.77000416_77001015del , CM000675.2:g.77000416_77001015del	GRCh38
NC_000013.10:g.77574551_77575150del , CM000675.1:g.77574551_77575150del	GRCh37
NC_000013.9:g.76472552_76473151del	NCBI36
NG_009064.1:g.13493_14092del , LRG_692:g.13493_14092del

Transcript Alleles

HGVS	Amino-acid change
ENST00000377453.9:c.566-42_*46del (CLN5)
ENST00000616833.6:c.*8-42_*565del (CLN5)
ENST00000635838.1:c.174+4289_174+4888del
ENST00000635905.1:n.566+4289_566+4888del (CLN5)
ENST00000635915.1:c.564-42_1121del (CLN5)
ENST00000636183.2:c.566-42_*46del (CLN5)
ENST00000636525.2:c.565+4289_565+4888del (CLN5)	ENSP00000490078.2:n.565+4289_565+4888del
ENST00000636681.1:c.*257-42_*814del (CLN5)
ENST00000636705.1:c.402-42_959del (CLN5)
ENST00000636767.2:c.565+4289_565+4888del (CLN5)	ENSP00000489855.2:n.565+4289_565+4888del
ENST00000636780.2:c.*15-42_*572del (CLN5)
ENST00000637192.1:c.213+4289_213+4888del
ENST00000637278.1:n.892-42_1449del (CLN5)
ENST00000637397.2:c.565+4289_565+4888del (CLN5)	ENSP00000490422.2:n.565+4289_565+4888del
ENST00000638101.1:c.169+4289_169+4888del	ENSP00000490535.1:n.169+4289_169+4888del
ENST00000638147.2:c.565+4289_565+4888del	ENSP00000490953.2:n.565+4289_565+4888del
ENST00000377453.7:c.713-42_*46del (CLN5)
ENST00000477982.2:n.1294_1893del (FBXL3)
ENST00000485797.2:n.174-8064_174-7465del (FBXL3)
ENST00000616833.4:c.566-42_*46del (CLN5)
NM_006493.2:c.713-42_*46del , LRG_692t1:c.713-42_*46del (CLN5)
NM_001366624.1:c.*15-42_*572del (CLN5)
NM_006493.3:c.566-42_*46del (CLN5)
XM_017020538.2:c.644-8064_644-7465del (FBXL3)	XP_016876027.1:n.644-8064_644-7465del
NM_001366624.2:c.*15-42_*572del (CLN5)
NM_006493.4:c.566-42_*46del (CLN5)