Canonical Allele Identifier: CA2574765890
Gene: CTSD HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753439del , CM000673.2:g.1753439del GRCh38
NC_000011.9:g.1774669del , CM000673.1:g.1774669del GRCh37
NC_000011.8:g.1731245del NCBI36
NG_008655.1:g.15556del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.*66del MANE Select ENSP00000236671.2:n.*66del
ENST00000367196.4:c.*66del ENSP00000356164.4:n.*66del
ENST00000427721.3:c.634+96del
ENST00000429746.2:c.*66del ENSP00000402586.2:n.*66del
ENST00000433655.6:c.*471del ENSP00000404902.1:n.*471del
ENST00000438213.6:c.*66del ENSP00000415036.2:n.*66del
ENST00000636397.1:c.1071+366del ENSP00000489910.1:n.1071+366del
ENST00000636571.1:c.*66del ENSP00000490770.1:n.*66del
ENST00000636579.1:c.72+366del ENSP00000490489.1:n.72+366del
ENST00000636615.1:c.1071+366del ENSP00000490014.1:n.1071+366del
ENST00000636843.1:c.*66del ENSP00000490897.1:n.*66del
ENST00000637158.1:n.903del
ENST00000637381.2:n.3733del
ENST00000637387.1:c.*66del ENSP00000490598.1:n.*66del
ENST00000637815.2:c.*66del ENSP00000490344.1:n.*66del
ENST00000637915.1:c.*66del ENSP00000490471.1:n.*66del
ENST00000637937.1:n.613del
ENST00000678991.1:c.*1166del ENSP00000503019.1:n.*1166del
ENST00000236671.6:c.*66del ENSP00000236671.2:n.*66del
ENST00000427721.2:c.471+366del ENSP00000415840.2:n.471+366del
ENST00000429746.1:c.636del ENSP00000402586.1:n.636del
ENST00000433655.5:c.*471del ENSP00000404902.1:n.*471del
NM_001909.4:c.*66del NP_001900.1:n.*66del
NM_001909.5:c.*66del MANE Select NP_001900.1:n.*66del