Canonical Allele Identifier: CA2611926828
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753467_1753469del , CM000673.2:g.1753467_1753469del GRCh38
NC_000011.9:g.1774697_1774699del , CM000673.1:g.1774697_1774699del GRCh37
NC_000011.8:g.1731273_1731275del NCBI36
NG_008655.1:g.15527_15529del

Transcript Alleles

HGVS Amino-acid change
ENST00000236671.7:c.*37_*39del MANE Select ENSP00000236671.2:n.*37_*39del
ENST00000367196.4:c.*37_*39del ENSP00000356164.4:n.*37_*39del
ENST00000427721.3:c.634+67_634+69del
ENST00000429746.2:c.*37_*39del ENSP00000402586.2:n.*37_*39del
ENST00000433655.6:c.*442_*444del ENSP00000404902.1:n.*442_*444del
ENST00000438213.6:c.*37_*39del ENSP00000415036.2:n.*37_*39del
ENST00000636397.1:c.1071+337_1071+339del ENSP00000489910.1:n.1071+337_1071+339del
ENST00000636571.1:c.*37_*39del ENSP00000490770.1:n.*37_*39del
ENST00000636579.1:c.72+337_72+339del ENSP00000490489.1:n.72+337_72+339del
ENST00000636615.1:c.1071+337_1071+339del ENSP00000490014.1:n.1071+337_1071+339del
ENST00000636843.1:c.*37_*39del ENSP00000490897.1:n.*37_*39del
ENST00000637158.1:n.874_876del
ENST00000637381.2:n.3704_3706del
ENST00000637387.1:c.*37_*39del ENSP00000490598.1:n.*37_*39del
ENST00000637815.2:c.*37_*39del ENSP00000490344.1:n.*37_*39del
ENST00000637915.1:c.*37_*39del ENSP00000490471.1:n.*37_*39del
ENST00000637937.1:n.584_586del
ENST00000678991.1:c.*1137_*1139del ENSP00000503019.1:n.*1137_*1139del
ENST00000236671.6:c.*37_*39del ENSP00000236671.2:n.*37_*39del
ENST00000427721.2:c.471+337_471+339del ENSP00000415840.2:n.471+337_471+339del
ENST00000429746.1:c.607_609del ENSP00000402586.1:n.607_609del
ENST00000433655.5:c.*442_*444del ENSP00000404902.1:n.*442_*444del
NM_001909.4:c.*37_*39del NP_001900.1:n.*37_*39del
NM_001909.5:c.*37_*39del MANE Select NP_001900.1:n.*37_*39del