Canonical Allele Identifier: CA258043
Gene: CTSD HGNC NCBI

Linked Data

ClinVar Variation Id: 17575
ClinVar RCV Id: RCV000019136
dbSNP Id: rs786205105

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1754969dup , CM000673.2:g.1754969dup GRCh38
NC_000011.9:g.1776199dup , CM000673.1:g.1776199dup GRCh37
NC_000011.8:g.1732775dup NCBI36
NG_008655.1:g.14024dup

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.764dup MANE Select ENSP00000236671.2:p.Tyr255Ter
ENST00000367196.4:c.659dup ENSP00000356164.4:p.Tyr220Ter
ENST00000427721.3:c.189dup
ENST00000429746.2:c.659dup ENSP00000402586.2:p.Tyr220Ter
ENST00000433655.6:c.764dup ENSP00000404902.1:p.Tyr255Ter
ENST00000438213.6:c.764dup ENSP00000415036.2:p.Tyr255Ter
ENST00000497544.3:n.380dup
ENST00000636397.1:c.764dup ENSP00000489910.1:p.Tyr255Ter
ENST00000636571.1:c.743dup ENSP00000490770.1:p.Tyr248Ter
ENST00000636615.1:c.764dup ENSP00000490014.1:p.Tyr255Ter
ENST00000636843.1:c.758dup ENSP00000490897.1:p.Tyr253Ter
ENST00000637158.1:n.362dup
ENST00000637381.2:n.3192dup
ENST00000637387.1:c.764dup ENSP00000490598.1:p.Tyr255Ter
ENST00000637815.2:c.764dup ENSP00000490344.1:p.Tyr255Ter
ENST00000637915.1:c.764dup ENSP00000490471.1:p.Tyr255Ter
ENST00000637937.1:n.72dup
ENST00000678991.1:c.*625dup ENSP00000503019.1:n.*625dup
ENST00000236671.6:c.764dup ENSP00000236671.2:p.Tyr255Ter
ENST00000427721.2:c.164dup ENSP00000415840.2:p.Tyr55Ter
ENST00000433655.5:c.764dup ENSP00000404902.1:p.Tyr255Ter
ENST00000438213.5:c.719dup ENSP00000415036.1:p.Tyr240Ter
ENST00000497544.1:n.380dup
NM_001909.4:c.764dup NP_001900.1:p.Tyr255Ter
NM_001909.5:c.764dup MANE Select NP_001900.1:p.Tyr255Ter