Canonical Allele Identifier: CA597430601
Gene: CTSD HGNC NCBI

Linked Data

dbSNP Id: rs1565018367

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753488_1753489del , CM000673.2:g.1753488_1753489del GRCh38
NC_000011.9:g.1774718_1774719del , CM000673.1:g.1774718_1774719del GRCh37
NC_000011.8:g.1731294_1731295del NCBI36
NG_008655.1:g.15509_15510del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.*19_*20del MANE Select ENSP00000236671.2:n.*19_*20del
ENST00000367196.4:c.*19_*20del ENSP00000356164.4:n.*19_*20del
ENST00000427721.3:c.634+49_634+50del
ENST00000429746.2:c.*19_*20del ENSP00000402586.2:n.*19_*20del
ENST00000433655.6:c.*424_*425del ENSP00000404902.1:n.*424_*425del
ENST00000438213.6:c.*19_*20del ENSP00000415036.2:n.*19_*20del
ENST00000636397.1:c.1071+319_1071+320del ENSP00000489910.1:n.1071+319_1071+320del
ENST00000636571.1:c.*19_*20del ENSP00000490770.1:n.*19_*20del
ENST00000636579.1:c.72+319_72+320del ENSP00000490489.1:n.72+319_72+320del
ENST00000636615.1:c.1071+319_1071+320del ENSP00000490014.1:n.1071+319_1071+320del
ENST00000636843.1:c.*19_*20del ENSP00000490897.1:n.*19_*20del
ENST00000637158.1:n.856_857del
ENST00000637381.2:n.3686_3687del
ENST00000637387.1:c.*19_*20del ENSP00000490598.1:n.*19_*20del
ENST00000637815.2:c.*19_*20del ENSP00000490344.1:n.*19_*20del
ENST00000637915.1:c.*19_*20del ENSP00000490471.1:n.*19_*20del
ENST00000637937.1:n.566_567del
ENST00000678991.1:c.*1119_*1120del ENSP00000503019.1:n.*1119_*1120del
ENST00000236671.6:c.*19_*20del ENSP00000236671.2:n.*19_*20del
ENST00000427721.2:c.471+319_471+320del ENSP00000415840.2:n.471+319_471+320del
ENST00000429746.1:c.589_590del ENSP00000402586.1:n.589_590del
ENST00000433655.5:c.*424_*425del ENSP00000404902.1:n.*424_*425del
NM_001909.4:c.*19_*20del NP_001900.1:n.*19_*20del
NM_001909.5:c.*19_*20del MANE Select NP_001900.1:n.*19_*20del