Canonical Allele Identifier: CA16041687

Linked Data

ClinVar Variation Id: 370310
ClinVar RCV Id: RCV000409719
dbSNP Id: rs1057516390

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76995901del , CM000675.2:g.76995901del GRCh38
NC_000013.10:g.77570036del , CM000675.1:g.77570036del GRCh37
NC_000013.9:g.76468037del NCBI36
NG_009064.1:g.8978del , LRG_692:g.8978del

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.340-1del (CLN5) MANE Select ENSP00000366673.5:n.340-1del
ENST00000485938.4:c.340-1del (CLN5) ENSP00000482959.3:n.340-1del
ENST00000616833.6:c.340-1del (CLN5) ENSP00000479547.3:n.340-1del
ENST00000635905.1:n.341-1del (CLN5)
ENST00000635915.1:c.337del (CLN5)
ENST00000635989.1:n.407-1del (CLN5)
ENST00000636183.2:c.340-1del (CLN5) ENSP00000490181.2:n.340-1del
ENST00000636520.1:n.1851del (CLN5)
ENST00000636525.2:c.340-1del (CLN5) ENSP00000490078.2:n.340-1del
ENST00000636602.1:n.286-1del (CLN5)
ENST00000636681.1:c.*31-1del (CLN5) ENSP00000489922.1:n.*31-1del
ENST00000636705.1:c.176-1del (CLN5)
ENST00000636767.2:c.340-1del (CLN5) ENSP00000489855.2:n.340-1del
ENST00000636780.2:c.340-1del (CLN5) ENSP00000489809.2:n.340-1del
ENST00000637278.1:n.665del (CLN5)
ENST00000637397.2:c.340-1del (CLN5) ENSP00000490422.2:n.340-1del
ENST00000637537.2:c.340-1del (CLN5) ENSP00000489711.2:n.340-1del
ENST00000638147.2:c.340-1del ENSP00000490953.2:n.340-1del
ENST00000377453.7:c.487-1del (CLN5) ENSP00000366673.3:n.487-1del
ENST00000485797.2:n.174-2950del (FBXL3)
ENST00000485938.2:c.323-1del (CLN5)
ENST00000616833.4:c.340-1del (CLN5) ENSP00000479547.1:n.340-1del
NM_006493.2:c.487-1del , LRG_692t1:c.487-1del (CLN5) NP_006484.1:n.487-1del
XM_011534917.1:c.487-1del (CLN5) XP_011533219.1:n.487-1del
NM_001366624.1:c.340-1del (CLN5) NP_001353553.1:n.340-1del
NM_006493.3:c.340-1del (CLN5) NP_006484.2:n.340-1del
XM_017020538.2:c.644-2950del (FBXL3) XP_016876027.1:n.644-2950del
NM_001366624.2:c.340-1del (CLN5) NP_001353553.1:n.340-1del
NM_006493.4:c.340-1del (CLN5) MANE Select NP_006484.2:n.340-1del