Canonical Allele Identifier: CA2103436705
Gene: CLN5 HGNC NCBI
FBXL3 HGNC NCBI

Linked Data

dbSNP Id: rs2034350770
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000920dup , CM000675.2:g.77000920dup GRCh38
NC_000013.10:g.77575055dup , CM000675.1:g.77575055dup GRCh37
NC_000013.9:g.76473056dup NCBI36
NG_009064.1:g.13997dup , LRG_692:g.13997dup

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.1028dup (CLN5) MANE Select ENSP00000366673.5:p.Tyr343Ter
ENST00000616833.6:c.*470dup (CLN5) ENSP00000479547.3:n.*470dup
ENST00000635838.1:c.174+4793dup
ENST00000635905.1:n.566+4793dup (CLN5)
ENST00000635915.1:c.1026dup (CLN5)
ENST00000636183.2:c.1028dup (CLN5) ENSP00000490181.2:p.Tyr343Ter
ENST00000636525.2:c.565+4793dup (CLN5) ENSP00000490078.2:n.565+4793dup
ENST00000636681.1:c.*719dup (CLN5) ENSP00000489922.1:n.*719dup
ENST00000636705.1:c.864dup (CLN5)
ENST00000636767.2:c.565+4793dup (CLN5) ENSP00000489855.2:n.565+4793dup
ENST00000636780.2:c.*477dup (CLN5) ENSP00000489809.2:n.*477dup
ENST00000637192.1:c.213+4793dup
ENST00000637278.1:n.1354dup (CLN5)
ENST00000637397.2:c.565+4793dup (CLN5) ENSP00000490422.2:n.565+4793dup
ENST00000638101.1:c.169+4793dup ENSP00000490535.1:n.169+4793dup
ENST00000638147.2:c.565+4793dup ENSP00000490953.2:n.565+4793dup
ENST00000377453.7:c.1175dup (CLN5) ENSP00000366673.3:p.Tyr392Ter
ENST00000477982.2:n.1389dup (FBXL3)
ENST00000485797.2:n.174-7969dup (FBXL3)
ENST00000616833.4:c.1028dup (CLN5) ENSP00000479547.1:p.Tyr343Ter
NM_006493.2:c.1175dup , LRG_692t1:c.1175dup (CLN5) NP_006484.1:p.Tyr392Ter
NM_001366624.1:c.*477dup (CLN5) NP_001353553.1:n.*477dup
NM_006493.3:c.1028dup (CLN5) NP_006484.2:p.Tyr343Ter
XM_017020538.2:c.644-7969dup (FBXL3) XP_016876027.1:n.644-7969dup
NM_001366624.2:c.*477dup (CLN5) NP_001353553.1:n.*477dup
NM_006493.4:c.1028dup (CLN5) MANE Select NP_006484.2:p.Tyr343Ter
Search 100 bp 5'
Search 100 bp 3'