Canonical Allele Identifier: CA3002958292

Gene: CTSD

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754047dup , CM000673.2:g.1754047dup	GRCh38
NC_000011.9:g.1775277dup , CM000673.1:g.1775277dup	GRCh37
NC_000011.8:g.1731853dup	NCBI36
NG_008655.1:g.14946dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.919dup MANE Select	ENSP00000236671.2:p.Glu307GlyfsTer24
ENST00000367196.4:c.814dup	ENSP00000356164.4:p.Glu272GlyfsTer24
ENST00000427721.3:c.344dup
ENST00000429746.2:c.814dup	ENSP00000402586.2:p.Glu272GlyfsTer24
ENST00000433655.6:c.*85dup	ENSP00000404902.1:n.*85dup
ENST00000438213.6:c.1036dup	ENSP00000415036.2:p.Glu346GlyfsTer24
ENST00000497544.3:n.535dup
ENST00000636397.1:c.919dup	ENSP00000489910.1:p.Glu307GlyfsTer24
ENST00000636571.1:c.898dup	ENSP00000490770.1:p.Glu300GlyfsTer24
ENST00000636615.1:c.919dup	ENSP00000490014.1:p.Glu307GlyfsTer24
ENST00000636843.1:c.913dup	ENSP00000490897.1:p.Glu305GlyfsTer24
ENST00000637158.1:n.517dup
ENST00000637381.2:n.3347dup
ENST00000637387.1:c.919dup	ENSP00000490598.1:p.Glu307GlyfsTer?
ENST00000637815.2:c.901dup	ENSP00000490344.1:p.Glu301GlyfsTer24
ENST00000637915.1:c.919dup	ENSP00000490471.1:p.Glu307GlyfsTer24
ENST00000637937.1:n.227dup
ENST00000678991.1:c.*780dup	ENSP00000503019.1:n.*780dup
ENST00000236671.6:c.919dup	ENSP00000236671.2:p.Glu307GlyfsTer24
ENST00000427721.2:c.319dup	ENSP00000415840.2:p.Glu107GlyfsTer24
ENST00000429746.1:c.250dup	ENSP00000402586.1:p.Glu84GlyfsTer24
ENST00000433655.5:c.*85dup	ENSP00000404902.1:n.*85dup
ENST00000438213.5:c.874dup	ENSP00000415036.1:p.Glu292GlyfsTer?
ENST00000497544.1:n.535dup
NM_001909.4:c.919dup	NP_001900.1:p.Glu307GlyfsTer24
NM_001909.5:c.919dup MANE Select	NP_001900.1:p.Glu307GlyfsTer24