Canonical Allele Identifier: CA2611927194
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753699_1753707del , CM000673.2:g.1753699_1753707del GRCh38
NC_000011.9:g.1774929_1774937del , CM000673.1:g.1774929_1774937del GRCh37
NC_000011.8:g.1731505_1731513del NCBI36
NG_008655.1:g.15288_15296del

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1072-35_1072-27del MANE Select ENSP00000236671.2:n.1072-35_1072-27del
ENST00000367196.4:c.967-35_967-27del ENSP00000356164.4:n.967-35_967-27del
ENST00000427721.3:c.497-35_497-27del
ENST00000429746.2:c.967-35_967-27del ENSP00000402586.2:n.967-35_967-27del
ENST00000433655.6:c.*238-35_*238-27del ENSP00000404902.1:n.*238-35_*238-27del
ENST00000438213.6:c.1189-35_1189-27del ENSP00000415036.2:n.1189-35_1189-27del
ENST00000497544.3:n.780-35_780-27del
ENST00000636397.1:c.1071+98_1071+106del ENSP00000489910.1:n.1071+98_1071+106del
ENST00000636571.1:c.1051-35_1051-27del ENSP00000490770.1:n.1051-35_1051-27del
ENST00000636579.1:c.72+98_72+106del ENSP00000490489.1:n.72+98_72+106del
ENST00000636615.1:c.1071+98_1071+106del ENSP00000490014.1:n.1071+98_1071+106del
ENST00000636843.1:c.1066-35_1066-27del ENSP00000490897.1:n.1066-35_1066-27del
ENST00000637158.1:n.670-35_670-27del
ENST00000637381.2:n.3500-35_3500-27del
ENST00000637387.1:c.1051-35_1051-27del ENSP00000490598.1:n.1051-35_1051-27del
ENST00000637815.2:c.1054-35_1054-27del ENSP00000490344.1:n.1054-35_1054-27del
ENST00000637915.1:c.1072-44_1072-36del ENSP00000490471.1:n.1072-44_1072-36del
ENST00000637937.1:n.380-35_380-27del
ENST00000678991.1:c.*933-35_*933-27del ENSP00000503019.1:n.*933-35_*933-27del
ENST00000236671.6:c.1072-35_1072-27del ENSP00000236671.2:n.1072-35_1072-27del
ENST00000427721.2:c.471+98_471+106del ENSP00000415840.2:n.471+98_471+106del
ENST00000429746.1:c.403-35_403-27del ENSP00000402586.1:n.403-35_403-27del
ENST00000433655.5:c.*238-35_*238-27del ENSP00000404902.1:n.*238-35_*238-27del
NM_001909.4:c.1072-35_1072-27del NP_001900.1:n.1072-35_1072-27del
NM_001909.5:c.1072-35_1072-27del MANE Select NP_001900.1:n.1072-35_1072-27del