Canonical Allele Identifier: CA2580082670

Gene: CTSD

Linked Data

• ClinVar Variation Id: 1999365
• ClinVar RCV Id: RCV002819548

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754022_1754055del , CM000673.2:g.1754022_1754055del	GRCh38
NC_000011.9:g.1775252_1775285del , CM000673.1:g.1775252_1775285del	GRCh37
NC_000011.8:g.1731828_1731861del	NCBI36
NG_008655.1:g.14941_14974del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.914_947del MANE Select	ENSP00000236671.2:p.Val305GlyfsTer5
ENST00000367196.4:c.809_842del	ENSP00000356164.4:p.Val270GlyfsTer5
ENST00000427721.3:c.339_372del
ENST00000429746.2:c.809_842del	ENSP00000402586.2:p.Val270GlyfsTer5
ENST00000433655.6:c.*80_*113del	ENSP00000404902.1:n.*80_*113del
ENST00000438213.6:c.1031_1064del	ENSP00000415036.2:p.Val344GlyfsTer5
ENST00000497544.3:n.530_563del
ENST00000636397.1:c.914_947del	ENSP00000489910.1:p.Val305GlyfsTer5
ENST00000636571.1:c.893_926del	ENSP00000490770.1:p.Val298GlyfsTer5
ENST00000636615.1:c.914_947del	ENSP00000490014.1:p.Val305GlyfsTer5
ENST00000636843.1:c.908_941del	ENSP00000490897.1:p.Val303GlyfsTer5
ENST00000637158.1:n.512_545del
ENST00000637381.2:n.3342_3375del
ENST00000637387.1:c.914_947del	ENSP00000490598.1:p.Val305GlyfsTer5
ENST00000637815.2:c.896_929del	ENSP00000490344.1:p.Val299GlyfsTer5
ENST00000637915.1:c.914_947del	ENSP00000490471.1:p.Val305GlyfsTer5
ENST00000637937.1:n.222_255del
ENST00000678991.1:c.*775_*808del	ENSP00000503019.1:n.*775_*808del
ENST00000236671.6:c.914_947del	ENSP00000236671.2:p.Val305GlyfsTer5
ENST00000427721.2:c.314_347del	ENSP00000415840.2:p.Val105GlyfsTer5
ENST00000429746.1:c.245_278del	ENSP00000402586.1:p.Val82GlyfsTer5
ENST00000433655.5:c.*80_*113del	ENSP00000404902.1:n.*80_*113del
ENST00000497544.1:n.530_563del
NM_001909.4:c.914_947del	NP_001900.1:p.Val305GlyfsTer5
NM_001909.5:c.914_947del MANE Select	NP_001900.1:p.Val305GlyfsTer5