Canonical Allele Identifier: CA263877

Linked Data

ClinVar Variation Id: 56527
ClinVar RCV Id: RCV000049940
dbSNP Id: rs386833965

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.77000817_77000818del , CM000675.2:g.77000817_77000818del GRCh38
NC_000013.10:g.77574952_77574953del , CM000675.1:g.77574952_77574953del GRCh37
NC_000013.9:g.76472953_76472954del NCBI36
NG_009064.1:g.13894_13895del , LRG_692:g.13894_13895del

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.925_926del (CLN5) MANE Select ENSP00000366673.5:p.Leu309AlafsTer4
ENST00000616833.6:c.*367_*368del (CLN5) ENSP00000479547.3:n.*367_*368del
ENST00000635838.1:c.174+4690_174+4691del
ENST00000635905.1:n.566+4690_566+4691del (CLN5)
ENST00000635915.1:c.923_924del (CLN5)
ENST00000636183.2:c.925_926del (CLN5) ENSP00000490181.2:p.Leu309AlafsTer4
ENST00000636525.2:c.565+4690_565+4691del (CLN5) ENSP00000490078.2:n.565+4690_565+4691del
ENST00000636681.1:c.*616_*617del (CLN5) ENSP00000489922.1:n.*616_*617del
ENST00000636705.1:c.761_762del (CLN5)
ENST00000636767.2:c.565+4690_565+4691del (CLN5) ENSP00000489855.2:n.565+4690_565+4691del
ENST00000636780.2:c.*374_*375del (CLN5) ENSP00000489809.2:n.*374_*375del
ENST00000637192.1:c.213+4690_213+4691del
ENST00000637278.1:n.1251_1252del (CLN5)
ENST00000637397.2:c.565+4690_565+4691del (CLN5) ENSP00000490422.2:n.565+4690_565+4691del
ENST00000638101.1:c.169+4690_169+4691del ENSP00000490535.1:n.169+4690_169+4691del
ENST00000638147.2:c.565+4690_565+4691del ENSP00000490953.2:n.565+4690_565+4691del
ENST00000377453.7:c.1072_1073del (CLN5) ENSP00000366673.3:p.Leu358AlafsTer4
ENST00000477982.2:n.1491_1492del (FBXL3)
ENST00000485797.2:n.174-7867_174-7866del (FBXL3)
ENST00000616833.4:c.925_926del (CLN5) ENSP00000479547.1:p.Leu309AlafsTer4
NM_006493.2:c.1072_1073del , LRG_692t1:c.1072_1073del (CLN5) NP_006484.1:p.Leu358AlafsTer4
XM_011534917.1:c.*374_*375del (CLN5) XP_011533219.1:n.*374_*375del
NM_001366624.1:c.*374_*375del (CLN5) NP_001353553.1:n.*374_*375del
NM_006493.3:c.925_926del (CLN5) NP_006484.2:p.Leu309AlafsTer4
XM_017020538.2:c.644-7867_644-7866del (FBXL3) XP_016876027.1:n.644-7867_644-7866del
NM_001366624.2:c.*374_*375del (CLN5) NP_001353553.1:n.*374_*375del
NM_006493.4:c.925_926del (CLN5) MANE Select NP_006484.2:p.Leu309AlafsTer4