Canonical Allele Identifier: CA934405344

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2117602
• ClinVar RCV Id: RCV003039282
• dbSNP Id: rs1845792332
• gnomAD v3: 11-1754976-T-TG
• gnomAD v4: 11-1754976-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754978dup , CM000673.2:g.1754978dup	GRCh38
NC_000011.9:g.1776208dup , CM000673.1:g.1776208dup	GRCh37
NC_000011.8:g.1732784dup	NCBI36
NG_008655.1:g.14016dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.756dup MANE Select	ENSP00000236671.2:p.Lys253GlnfsTer?
ENST00000367196.4:c.651dup	ENSP00000356164.4:p.Lys218GlnfsTer?
ENST00000427721.3:c.181dup
ENST00000429746.2:c.651dup	ENSP00000402586.2:p.Lys218GlnfsTer?
ENST00000433655.6:c.756dup	ENSP00000404902.1:p.Lys253GlnfsTer?
ENST00000438213.6:c.756dup	ENSP00000415036.2:p.Lys253GlnfsTer27
ENST00000497544.3:n.372dup
ENST00000636397.1:c.756dup	ENSP00000489910.1:p.Lys253GlnfsTer?
ENST00000636571.1:c.735dup	ENSP00000490770.1:p.Lys246GlnfsTer?
ENST00000636615.1:c.756dup	ENSP00000490014.1:p.Lys253GlnfsTer?
ENST00000636843.1:c.750dup	ENSP00000490897.1:p.Lys251GlnfsTer?
ENST00000637158.1:n.354dup
ENST00000637381.2:n.3184dup
ENST00000637387.1:c.756dup	ENSP00000490598.1:p.Lys253GlnfsTer?
ENST00000637815.2:c.756dup	ENSP00000490344.1:p.Lys253GlnfsTer?
ENST00000637915.1:c.756dup	ENSP00000490471.1:p.Lys253GlnfsTer?
ENST00000637937.1:n.64dup
ENST00000678991.1:c.*617dup	ENSP00000503019.1:n.*617dup
ENST00000236671.6:c.756dup	ENSP00000236671.2:p.Lys253GlnfsTer?
ENST00000427721.2:c.156dup	ENSP00000415840.2:p.Lys53GlnfsTer?
ENST00000433655.5:c.756dup	ENSP00000404902.1:p.Lys253GlnfsTer?
ENST00000438213.5:c.711dup	ENSP00000415036.1:p.Lys238GlnfsTer?
ENST00000497544.1:n.372dup
NM_001909.4:c.756dup	NP_001900.1:p.Lys253GlnfsTer?
NM_001909.5:c.756dup MANE Select	NP_001900.1:p.Lys253GlnfsTer?