Canonical Allele Identifier: CA5813990

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2145840
• ClinVar RCV Id: RCV003065238
• dbSNP Id: rs774781089
• ExAC: 11:1775243 AC / A
• gnomAD v2: 11-1775243-AC-A
• gnomAD v4: 11-1754013-AC-A
• MyVariant Identifiers: chr11:g.1775244del (hg19) ; chr11:g.1754014del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754014del , CM000673.2:g.1754014del	GRCh38
NC_000011.9:g.1775244del , CM000673.1:g.1775244del	GRCh37
NC_000011.8:g.1731820del	NCBI36
NG_008655.1:g.14979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.952del MANE Select	ENSP00000236671.2:p.Val318CysfsTer3
ENST00000367196.4:c.847del	ENSP00000356164.4:p.Val283CysfsTer3
ENST00000427721.3:c.377del
ENST00000429746.2:c.847del	ENSP00000402586.2:p.Val283CysfsTer3
ENST00000433655.6:c.*118del	ENSP00000404902.1:n.*118del
ENST00000438213.6:c.1069del	ENSP00000415036.2:p.Val357CysfsTer3
ENST00000497544.3:n.568del
ENST00000636397.1:c.952del	ENSP00000489910.1:p.Val318CysfsTer3
ENST00000636571.1:c.931del	ENSP00000490770.1:p.Val311CysfsTer3
ENST00000636615.1:c.952del	ENSP00000490014.1:p.Val318CysfsTer3
ENST00000636843.1:c.946del	ENSP00000490897.1:p.Val316CysfsTer3
ENST00000637158.1:n.550del
ENST00000637381.2:n.3380del
ENST00000637387.1:c.952del	ENSP00000490598.1:p.Val318CysfsTer3
ENST00000637815.2:c.934del	ENSP00000490344.1:p.Val312CysfsTer3
ENST00000637915.1:c.952del	ENSP00000490471.1:p.Val318CysfsTer3
ENST00000637937.1:n.260del
ENST00000678991.1:c.*813del	ENSP00000503019.1:n.*813del
ENST00000236671.6:c.952del	ENSP00000236671.2:p.Val318CysfsTer3
ENST00000427721.2:c.352del	ENSP00000415840.2:p.Val118CysfsTer3
ENST00000429746.1:c.283del	ENSP00000402586.1:p.Val95CysfsTer3
ENST00000433655.5:c.*118del	ENSP00000404902.1:n.*118del
ENST00000497544.1:n.568del
NM_001909.4:c.952del	NP_001900.1:p.Val318CysfsTer3
NM_001909.5:c.952del MANE Select	NP_001900.1:p.Val318CysfsTer3