Canonical Allele Identifier: CA5814243

Gene: CTSD

Linked Data

• ClinVar Variation Id: 430138
• ClinVar RCV Id: RCV000494186
• dbSNP Id: rs752612332
• ExAC: 11:1780829 T / TG
• gnomAD v2: 11-1780829-T-TG
• gnomAD v3: 11-1759599-T-TG
• gnomAD v4: 11-1759599-T-TG
• COSMIC: COSM291678
• MyVariant Identifiers: chr11:g.1780830dup (hg19) ; chr11:g.1780830_1780831insG (hg19) ; chr11:g.1780829_1780830insG (hg19) ; chr11:g.1759600dup (hg38) ; chr11:g.1759599_1759600insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759606dup , CM000673.2:g.1759606dup	GRCh38
NC_000011.9:g.1780836dup , CM000673.1:g.1780836dup	GRCh37
NC_000011.8:g.1737412dup	NCBI36
NG_008655.1:g.9393dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.268dup MANE Select	ENSP00000236671.2:p.Gln90ProfsTer?
ENST00000367196.4:c.163dup	ENSP00000356164.4:p.Gln55ProfsTer?
ENST00000429746.2:c.163dup	ENSP00000402586.2:p.Gln55ProfsTer?
ENST00000433655.6:c.268dup	ENSP00000404902.1:p.Gln90ProfsTer?
ENST00000438213.6:c.268dup	ENSP00000415036.2:p.Gln90ProfsTer?
ENST00000636397.1:c.268dup	ENSP00000489910.1:p.Gln90ProfsTer?
ENST00000636571.1:c.247dup	ENSP00000490770.1:p.Gln83ProfsTer?
ENST00000636615.1:c.268dup	ENSP00000490014.1:p.Gln90ProfsTer?
ENST00000636843.1:c.262dup	ENSP00000490897.1:p.Gln88ProfsTer?
ENST00000637381.2:n.2696dup
ENST00000637387.1:c.268dup	ENSP00000490598.1:p.Gln90ProfsTer?
ENST00000637815.2:c.268dup	ENSP00000490344.1:p.Gln90ProfsTer?
ENST00000637915.1:c.268dup	ENSP00000490471.1:p.Gln90ProfsTer?
ENST00000677300.1:n.663dup
ENST00000678991.1:c.*129dup	ENSP00000503019.1:n.*129dup
ENST00000236671.6:c.268dup	ENSP00000236671.2:p.Gln90ProfsTer?
ENST00000367196.3:c.163dup	ENSP00000356164.3:p.Gln55ProfsTer?
ENST00000433655.5:c.268dup	ENSP00000404902.1:p.Gln90ProfsTer?
ENST00000438213.5:c.223dup	ENSP00000415036.1:p.Gln75ProfsTer?
NM_001909.4:c.268dup	NP_001900.1:p.Gln90ProfsTer?
NM_001909.5:c.268dup MANE Select	NP_001900.1:p.Gln90ProfsTer?