Canonical Allele Identifier: CA16041686
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 371261
dbSNP Id: rs1057517134

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992253_76992265del , CM000675.2:g.76992253_76992265del GRCh38
NC_000013.10:g.77566388_77566400del , CM000675.1:g.77566388_77566400del GRCh37
NC_000013.9:g.76464389_76464401del NCBI36
NG_009064.1:g.5330_5342del , LRG_692:g.5330_5342del

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.155_167del MANE Select ENSP00000366673.5:p.His52ProfsTer?
ENST00000485938.4:c.155_167del ENSP00000482959.3:p.His52ProfsTer?
ENST00000616833.6:c.155_167del ENSP00000479547.3:p.His52ProfsTer?
ENST00000635905.1:n.156_168del
ENST00000635915.1:c.94_106del
ENST00000635989.1:n.165_177del
ENST00000636183.2:c.155_167del ENSP00000490181.2:p.His52ProfsTer?
ENST00000636525.2:c.155_167del ENSP00000490078.2:p.His52ProfsTer?
ENST00000636767.2:c.155_167del ENSP00000489855.2:p.His52ProfsTer?
ENST00000636780.2:c.155_167del ENSP00000489809.2:p.His52ProfsTer?
ENST00000637397.2:c.155_167del ENSP00000490422.2:p.His52ProfsTer?
ENST00000637537.2:c.155_167del ENSP00000489711.2:p.His52ProfsTer?
ENST00000638147.2:c.155_167del ENSP00000490953.2:p.His52ProfsTer?
ENST00000377453.7:c.302_314del ENSP00000366673.3:p.His101ProfsTer?
ENST00000485938.2:c.138_150del
ENST00000616833.4:c.155_167del ENSP00000479547.1:p.His52ProfsTer?
NM_006493.2:c.302_314del , LRG_692t1:c.302_314del NP_006484.1:p.His101ProfsTer?
XM_011534917.1:c.302_314del XP_011533219.1:p.His101ProfsTer?
NM_001366624.1:c.155_167del NP_001353553.1:p.His52ProfsTer?
NM_006493.3:c.155_167del NP_006484.2:p.His52ProfsTer?
NM_001366624.2:c.155_167del NP_001353553.1:p.His52ProfsTer?
NM_006493.4:c.155_167del MANE Select NP_006484.2:p.His52ProfsTer?