Canonical Allele Identifier: CA2580082672

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2110823
• ClinVar RCV Id: RCV003042540

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754055_1754063del , CM000673.2:g.1754055_1754063del	GRCh38
NC_000011.9:g.1775285_1775293del , CM000673.1:g.1775285_1775293del	GRCh37
NC_000011.8:g.1731861_1731869del	NCBI36
NG_008655.1:g.14935_14943del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.908_916del MANE Select	ENSP00000236671.2:p.Gly303_Val305del
ENST00000367196.4:c.803_811del	ENSP00000356164.4:p.Gly268_Val270del
ENST00000427721.3:c.333_341del
ENST00000429746.2:c.803_811del	ENSP00000402586.2:p.Gly268_Val270del
ENST00000433655.6:c.*74_*82del	ENSP00000404902.1:n.*74_*82del
ENST00000438213.6:c.1025_1033del	ENSP00000415036.2:p.Gly342_Val344del
ENST00000497544.3:n.524_532del
ENST00000636397.1:c.908_916del	ENSP00000489910.1:p.Gly303_Val305del
ENST00000636571.1:c.887_895del	ENSP00000490770.1:p.Gly296_Val298del
ENST00000636615.1:c.908_916del	ENSP00000490014.1:p.Gly303_Val305del
ENST00000636843.1:c.902_910del	ENSP00000490897.1:p.Gly301_Val303del
ENST00000637158.1:n.506_514del
ENST00000637381.2:n.3336_3344del
ENST00000637387.1:c.908_916del	ENSP00000490598.1:p.Gly303_Val305del
ENST00000637815.2:c.890_898del	ENSP00000490344.1:p.Gly297_Val299del
ENST00000637915.1:c.908_916del	ENSP00000490471.1:p.Gly303_Val305del
ENST00000637937.1:n.216_224del
ENST00000678991.1:c.*769_*777del	ENSP00000503019.1:n.*769_*777del
ENST00000236671.6:c.908_916del	ENSP00000236671.2:p.Gly303_Val305del
ENST00000427721.2:c.308_316del	ENSP00000415840.2:p.Gly103_Val105del
ENST00000429746.1:c.239_247del	ENSP00000402586.1:p.Gly80_Val82del
ENST00000433655.5:c.*74_*82del	ENSP00000404902.1:n.*74_*82del
ENST00000438213.5:c.863_871del	ENSP00000415036.1:p.Gly288_Val290del
ENST00000497544.1:n.524_532del
NM_001909.4:c.908_916del	NP_001900.1:p.Gly303_Val305del
NM_001909.5:c.908_916del MANE Select	NP_001900.1:p.Gly303_Val305del