Canonical Allele Identifier: CA2580082659

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2135026
• ClinVar RCV Id: RCV003066081
• gnomAD v4: 11-1753888-CAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753889_1753890del , CM000673.2:g.1753889_1753890del	GRCh38
NC_000011.9:g.1775119_1775120del , CM000673.1:g.1775119_1775120del	GRCh37
NC_000011.8:g.1731695_1731696del	NCBI36
NG_008655.1:g.15103_15104del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.984_985del MANE Select	ENSP00000236671.2:p.Cys329Ter
ENST00000367196.4:c.879_880del	ENSP00000356164.4:p.Cys294Ter
ENST00000427721.3:c.409_410del
ENST00000429746.2:c.879_880del	ENSP00000402586.2:p.Cys294Ter
ENST00000433655.6:c.*150_*151del	ENSP00000404902.1:n.*150_*151del
ENST00000438213.6:c.1101_1102del	ENSP00000415036.2:p.Cys368Ter
ENST00000497544.3:n.692_693del
ENST00000636397.1:c.984_985del	ENSP00000489910.1:p.Cys329Ter
ENST00000636571.1:c.963_964del	ENSP00000490770.1:p.Cys322Ter
ENST00000636615.1:c.984_985del	ENSP00000490014.1:p.Cys329Ter
ENST00000636843.1:c.978_979del	ENSP00000490897.1:p.Cys327Ter
ENST00000637158.1:n.582_583del
ENST00000637381.2:n.3412_3413del
ENST00000637387.1:c.973-10_973-9del	ENSP00000490598.1:n.973-10_973-9del
ENST00000637815.2:c.966_967del	ENSP00000490344.1:p.Cys323Ter
ENST00000637915.1:c.984_985del	ENSP00000490471.1:p.Cys329Ter
ENST00000637937.1:n.292_293del
ENST00000678991.1:c.*845_*846del	ENSP00000503019.1:n.*845_*846del
ENST00000236671.6:c.984_985del	ENSP00000236671.2:p.Cys329Ter
ENST00000427721.2:c.384_385del	ENSP00000415840.2:p.Cys129Ter
ENST00000429746.1:c.315_316del	ENSP00000402586.1:p.Cys106Ter
ENST00000433655.5:c.*150_*151del	ENSP00000404902.1:n.*150_*151del
ENST00000497544.1:n.692_693del
NM_001909.4:c.984_985del	NP_001900.1:p.Cys329Ter
NM_001909.5:c.984_985del MANE Select	NP_001900.1:p.Cys329Ter