Canonical Allele Identifier: CA263883
Gene: CLN5 HGNC NCBI

Linked Data

ClinVar Variation Id: 56532
dbSNP Id: rs386833970

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.76992242dup , CM000675.2:g.76992242dup GRCh38
NC_000013.10:g.77566377dup , CM000675.1:g.77566377dup GRCh37
NC_000013.9:g.76464378dup NCBI36
NG_009064.1:g.5319dup , LRG_692:g.5319dup

Transcript Alleles

HGVS Amino-acid change
ENST00000377453.9:c.144dup MANE Select ENSP00000366673.5:p.Ser49LeufsTer13
ENST00000485938.4:c.144dup ENSP00000482959.3:p.Ser49LeufsTer13
ENST00000616833.6:c.144dup ENSP00000479547.3:p.Ser49LeufsTer13
ENST00000635905.1:n.145dup
ENST00000635915.1:c.83dup
ENST00000635989.1:n.154dup
ENST00000636183.2:c.144dup ENSP00000490181.2:p.Ser49LeufsTer13
ENST00000636525.2:c.144dup ENSP00000490078.2:p.Ser49LeufsTer13
ENST00000636767.2:c.144dup ENSP00000489855.2:p.Ser49LeufsTer13
ENST00000636780.2:c.144dup ENSP00000489809.2:p.Ser49LeufsTer13
ENST00000637397.2:c.144dup ENSP00000490422.2:p.Ser49LeufsTer13
ENST00000637537.2:c.144dup ENSP00000489711.2:p.Ser49LeufsTer13
ENST00000638147.2:c.144dup ENSP00000490953.2:p.Ser49LeufsTer13
ENST00000377453.7:c.291dup ENSP00000366673.3:p.Ser98LeufsTer13
ENST00000485938.2:c.127dup
ENST00000616833.4:c.144dup ENSP00000479547.1:p.Ser49LeufsTer13
NM_006493.2:c.291dup , LRG_692t1:c.291dup NP_006484.1:p.Ser98LeufsTer13
XM_011534917.1:c.291dup XP_011533219.1:p.Ser98LeufsTer13
NM_001366624.1:c.144dup NP_001353553.1:p.Ser49LeufsTer13
NM_006493.3:c.144dup NP_006484.2:p.Ser49LeufsTer13
NM_001366624.2:c.144dup NP_001353553.1:p.Ser49LeufsTer13
NM_006493.4:c.144dup MANE Select NP_006484.2:p.Ser49LeufsTer13