Canonical Allele Identifier: CA2580616896

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1510886
• ClinVar RCV Id: RCV002014199
• dbSNP Id: rs2133657191

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753597_1753598del , CM000673.2:g.1753597_1753598del	GRCh38
NC_000011.9:g.1774827_1774828del , CM000673.1:g.1774827_1774828del	GRCh37
NC_000011.8:g.1731403_1731404del	NCBI36
NG_008655.1:g.15397_15398del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1146_1147del MANE Select	ENSP00000236671.2:p.Trp383AspfsTer15
ENST00000367196.4:c.1041_1042del	ENSP00000356164.4:p.Trp348AspfsTer15
ENST00000427721.3:c.571_572del
ENST00000429746.2:c.1041_1042del	ENSP00000402586.2:p.Trp348AspfsTer15
ENST00000433655.6:c.*312_*313del	ENSP00000404902.1:n.*312_*313del
ENST00000438213.6:c.1263_1264del	ENSP00000415036.2:p.Trp422AspfsTer15
ENST00000636397.1:c.1071+207_1071+208del	ENSP00000489910.1:n.1071+207_1071+208del
ENST00000636571.1:c.1125_1126del	ENSP00000490770.1:p.Trp376AspfsTer15
ENST00000636579.1:c.72+207_72+208del	ENSP00000490489.1:n.72+207_72+208del
ENST00000636615.1:c.1071+207_1071+208del	ENSP00000490014.1:n.1071+207_1071+208del
ENST00000636843.1:c.1140_1141del	ENSP00000490897.1:p.Trp381AspfsTer15
ENST00000637158.1:n.744_745del
ENST00000637381.2:n.3574_3575del
ENST00000637387.1:c.1125_1126del	ENSP00000490598.1:p.Trp376AspfsTer15
ENST00000637815.2:c.1128_1129del	ENSP00000490344.1:p.Trp377AspfsTer15
ENST00000637915.1:c.1137_1138del	ENSP00000490471.1:p.Trp380AspfsTer15
ENST00000637937.1:n.454_455del
ENST00000678991.1:c.*1007_*1008del	ENSP00000503019.1:n.*1007_*1008del
ENST00000236671.6:c.1146_1147del	ENSP00000236671.2:p.Trp383AspfsTer15
ENST00000427721.2:c.471+207_471+208del	ENSP00000415840.2:n.471+207_471+208del
ENST00000429746.1:c.477_478del	ENSP00000402586.1:p.Trp160AspfsTer15
ENST00000433655.5:c.*312_*313del	ENSP00000404902.1:n.*312_*313del
NM_001909.4:c.1146_1147del	NP_001900.1:p.Trp383AspfsTer15
NM_001909.5:c.1146_1147del MANE Select	NP_001900.1:p.Trp383AspfsTer15