Canonical Allele Identifier: CA2573146020

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1452955
• ClinVar RCV Id: RCV002000048
• dbSNP Id: rs2133657826
• gnomAD v4: 11-1754016-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754020del , CM000673.2:g.1754020del	GRCh38
NC_000011.9:g.1775250del , CM000673.1:g.1775250del	GRCh37
NC_000011.8:g.1731826del	NCBI36
NG_008655.1:g.14976del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.949del MANE Select	ENSP00000236671.2:p.Ala317ProfsTer4
ENST00000367196.4:c.844del	ENSP00000356164.4:p.Ala282ProfsTer4
ENST00000427721.3:c.374del
ENST00000429746.2:c.844del	ENSP00000402586.2:p.Ala282ProfsTer4
ENST00000433655.6:c.*115del	ENSP00000404902.1:n.*115del
ENST00000438213.6:c.1066del	ENSP00000415036.2:p.Ala356ProfsTer4
ENST00000497544.3:n.565del
ENST00000636397.1:c.949del	ENSP00000489910.1:p.Ala317ProfsTer4
ENST00000636571.1:c.928del	ENSP00000490770.1:p.Ala310ProfsTer4
ENST00000636615.1:c.949del	ENSP00000490014.1:p.Ala317ProfsTer4
ENST00000636843.1:c.943del	ENSP00000490897.1:p.Ala315ProfsTer4
ENST00000637158.1:n.547del
ENST00000637381.2:n.3377del
ENST00000637387.1:c.949del	ENSP00000490598.1:p.Ala317ProfsTer4
ENST00000637815.2:c.931del	ENSP00000490344.1:p.Ala311ProfsTer4
ENST00000637915.1:c.949del	ENSP00000490471.1:p.Ala317ProfsTer4
ENST00000637937.1:n.257del
ENST00000678991.1:c.*810del	ENSP00000503019.1:n.*810del
ENST00000236671.6:c.949del	ENSP00000236671.2:p.Ala317ProfsTer4
ENST00000427721.2:c.349del	ENSP00000415840.2:p.Ala117ProfsTer4
ENST00000429746.1:c.280del	ENSP00000402586.1:p.Ala94ProfsTer4
ENST00000433655.5:c.*115del	ENSP00000404902.1:n.*115del
ENST00000497544.1:n.565del
NM_001909.4:c.949del	NP_001900.1:p.Ala317ProfsTer4
NM_001909.5:c.949del MANE Select	NP_001900.1:p.Ala317ProfsTer4