Canonical Allele Identifier: CA1947825146
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs1845755725

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753623del , CM000673.2:g.1753623del GRCh38
NC_000011.9:g.1774853del , CM000673.1:g.1774853del GRCh37
NC_000011.8:g.1731429del NCBI36
NG_008655.1:g.15371del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1120del MANE Select ENSP00000236671.2:p.Asp374ThrfsTer?
ENST00000367196.4:c.1015del ENSP00000356164.4:p.Asp339ThrfsTer?
ENST00000427721.3:c.545del
ENST00000429746.2:c.1015del ENSP00000402586.2:p.Asp339ThrfsTer?
ENST00000433655.6:c.*286del ENSP00000404902.1:n.*286del
ENST00000438213.6:c.1237del ENSP00000415036.2:p.Asp413ThrfsTer?
ENST00000636397.1:c.1071+181del ENSP00000489910.1:n.1071+181del
ENST00000636571.1:c.1099del ENSP00000490770.1:p.Asp367ThrfsTer?
ENST00000636579.1:c.72+181del ENSP00000490489.1:n.72+181del
ENST00000636615.1:c.1071+181del ENSP00000490014.1:n.1071+181del
ENST00000636843.1:c.1114del ENSP00000490897.1:p.Asp372ThrfsTer?
ENST00000637158.1:n.718del
ENST00000637381.2:n.3548del
ENST00000637387.1:c.1099del ENSP00000490598.1:p.Asp367ThrfsTer?
ENST00000637815.2:c.1102del ENSP00000490344.1:p.Asp368ThrfsTer?
ENST00000637915.1:c.1111del ENSP00000490471.1:p.Asp371ThrfsTer?
ENST00000637937.1:n.428del
ENST00000678991.1:c.*981del ENSP00000503019.1:n.*981del
ENST00000236671.6:c.1120del ENSP00000236671.2:p.Asp374ThrfsTer?
ENST00000427721.2:c.471+181del ENSP00000415840.2:n.471+181del
ENST00000429746.1:c.451del ENSP00000402586.1:p.Asp151ThrfsTer?
ENST00000433655.5:c.*286del ENSP00000404902.1:n.*286del
NM_001909.4:c.1120del NP_001900.1:p.Asp374ThrfsTer?
NM_001909.5:c.1120del MANE Select NP_001900.1:p.Asp374ThrfsTer?