Canonical Allele Identifier: CA263910

Linked Data

ClinVar Variation Id: 56543
dbSNP Id: rs386833979

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76996084dup , CM000675.2:g.76996084dup GRCh38
NC_000013.10:g.77570219dup , CM000675.1:g.77570219dup GRCh37
NC_000013.9:g.76468220dup NCBI36
NG_009064.1:g.9161dup , LRG_692:g.9161dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000377453.9:c.522dup (CLN5) MANE Select ENSP00000366673.5:p.Trp175LeufsTer30
ENST00000485938.4:c.522dup (CLN5) ENSP00000482959.3:p.Trp175LeufsTer16
ENST00000616833.6:c.522dup (CLN5) ENSP00000479547.3:p.Trp175LeufsTer28
ENST00000635838.1:c.131dup
ENST00000635905.1:n.523dup (CLN5)
ENST00000635915.1:c.520dup (CLN5)
ENST00000635989.1:n.589dup (CLN5)
ENST00000636183.2:c.522dup (CLN5) ENSP00000490181.2:p.Trp175LeufsTer30
ENST00000636520.1:n.2034dup (CLN5)
ENST00000636525.2:c.522dup (CLN5) ENSP00000490078.2:p.Trp175LeufsTer23
ENST00000636602.1:n.468dup (CLN5)
ENST00000636681.1:c.*213dup (CLN5) ENSP00000489922.1:n.*213dup
ENST00000636705.1:c.358dup (CLN5)
ENST00000636767.2:c.522dup (CLN5) ENSP00000489855.2:p.Trp175LeufsTer23
ENST00000636780.2:c.522dup (CLN5) ENSP00000489809.2:p.Trp175LeufsTer19
ENST00000637192.1:c.170dup
ENST00000637278.1:n.848dup (CLN5)
ENST00000637397.2:c.522dup (CLN5) ENSP00000490422.2:p.Trp175LeufsTer23
ENST00000637537.2:c.522dup (CLN5) ENSP00000489711.2:p.Trp175LeufsTer19
ENST00000638101.1:c.126dup ENSP00000490535.1:p.Trp43LeufsTer20
ENST00000638147.2:c.522dup ENSP00000490953.2:p.Trp175LeufsTer?
ENST00000377453.7:c.669dup (CLN5) ENSP00000366673.3:p.Trp224LeufsTer30
ENST00000485797.2:n.174-3133dup (FBXL3)
ENST00000485938.2:c.505dup (CLN5)
ENST00000616833.4:c.522dup (CLN5) ENSP00000479547.1:p.Trp175LeufsTer30
NM_006493.2:c.669dup , LRG_692t1:c.669dup (CLN5) NP_006484.1:p.Trp224LeufsTer30
XM_011534917.1:c.669dup (CLN5) XP_011533219.1:p.Trp224LeufsTer19
NM_001366624.1:c.522dup (CLN5) NP_001353553.1:p.Trp175LeufsTer19
NM_006493.3:c.522dup (CLN5) NP_006484.2:p.Trp175LeufsTer30
XM_017020538.2:c.644-3133dup (FBXL3) XP_016876027.1:n.644-3133dup
NM_001366624.2:c.522dup (CLN5) NP_001353553.1:p.Trp175LeufsTer19
NM_006493.4:c.522dup (CLN5) MANE Select NP_006484.2:p.Trp175LeufsTer30