Canonical Allele Identifier: CA263917

Linked Data

ClinVar Variation Id: 56546
dbSNP Id: rs386833982

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000664del , CM000675.2:g.77000664del GRCh38
NC_000013.10:g.77574799del , CM000675.1:g.77574799del GRCh37
NC_000013.9:g.76472800del NCBI36
NG_009064.1:g.13741del , LRG_692:g.13741del

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.772del (CLN5) MANE Select ENSP00000366673.5:p.Arg258GlufsTer29
ENST00000616833.6:c.*214del (CLN5) ENSP00000479547.3:n.*214del
ENST00000635838.1:c.174+4537del
ENST00000635905.1:n.566+4537del (CLN5)
ENST00000635915.1:c.770del (CLN5)
ENST00000636183.2:c.772del (CLN5) ENSP00000490181.2:p.Arg258GlufsTer29
ENST00000636525.2:c.565+4537del (CLN5) ENSP00000490078.2:n.565+4537del
ENST00000636681.1:c.*463del (CLN5) ENSP00000489922.1:n.*463del
ENST00000636705.1:c.608del (CLN5)
ENST00000636767.2:c.565+4537del (CLN5) ENSP00000489855.2:n.565+4537del
ENST00000636780.2:c.*221del (CLN5) ENSP00000489809.2:n.*221del
ENST00000637192.1:c.213+4537del
ENST00000637278.1:n.1098del (CLN5)
ENST00000637397.2:c.565+4537del (CLN5) ENSP00000490422.2:n.565+4537del
ENST00000638101.1:c.169+4537del ENSP00000490535.1:n.169+4537del
ENST00000638147.2:c.565+4537del ENSP00000490953.2:n.565+4537del
ENST00000377453.7:c.919del (CLN5) ENSP00000366673.3:p.Arg307GlufsTer29
ENST00000477982.2:n.1646del (FBXL3)
ENST00000485797.2:n.174-7712del (FBXL3)
ENST00000616833.4:c.772del (CLN5) ENSP00000479547.1:p.Arg258GlufsTer29
NM_006493.2:c.919del , LRG_692t1:c.919del (CLN5) NP_006484.1:p.Arg307GlufsTer29
XM_011534917.1:c.*221del (CLN5) XP_011533219.1:n.*221del
NM_001366624.1:c.*221del (CLN5) NP_001353553.1:n.*221del
NM_006493.3:c.772del (CLN5) NP_006484.2:p.Arg258GlufsTer29
XM_017020538.2:c.644-7712del (FBXL3) XP_016876027.1:n.644-7712del
NM_001366624.2:c.*221del (CLN5) NP_001353553.1:n.*221del
NM_006493.4:c.772del (CLN5) MANE Select NP_006484.2:p.Arg258GlufsTer29