Canonical Allele Identifier: CA2580082690

Gene: CTSD

Linked Data

• ClinVar Variation Id: 2021035
• ClinVar RCV Id: RCV002866228

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1757401_1757402del , CM000673.2:g.1757401_1757402del	GRCh38
NC_000011.9:g.1778631_1778632del , CM000673.1:g.1778631_1778632del	GRCh37
NC_000011.8:g.1735207_1735208del	NCBI36
NG_008655.1:g.11592_11593del

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.627_628del MANE Select	ENSP00000236671.2:p.Asn209LysfsTer?
ENST00000367196.4:c.522_523del	ENSP00000356164.4:p.Asn174LysfsTer?
ENST00000427721.3:c.52_53del
ENST00000429746.2:c.522_523del	ENSP00000402586.2:p.Asn174LysfsTer?
ENST00000433655.6:c.627_628del	ENSP00000404902.1:p.Asn209LysfsTer?
ENST00000438213.6:c.627_628del	ENSP00000415036.2:p.Asn209LysfsTer?
ENST00000636397.1:c.627_628del	ENSP00000489910.1:p.Asn209LysfsTer?
ENST00000636571.1:c.606_607del	ENSP00000490770.1:p.Asn202LysfsTer?
ENST00000636615.1:c.627_628del	ENSP00000490014.1:p.Asn209LysfsTer?
ENST00000636843.1:c.621_622del	ENSP00000490897.1:p.Asn207LysfsTer?
ENST00000637158.1:n.225_226del
ENST00000637381.2:n.3055_3056del
ENST00000637387.1:c.627_628del	ENSP00000490598.1:p.Asn209LysfsTer?
ENST00000637815.2:c.627_628del	ENSP00000490344.1:p.Asn209LysfsTer?
ENST00000637915.1:c.627_628del	ENSP00000490471.1:p.Asn209LysfsTer?
ENST00000677300.1:n.1022_1023del
ENST00000678991.1:c.*488_*489del	ENSP00000503019.1:n.*488_*489del
ENST00000236671.6:c.627_628del	ENSP00000236671.2:p.Asn209LysfsTer?
ENST00000367196.3:c.522_523del	ENSP00000356164.3:p.Asn174LysfsTer?
ENST00000427721.2:c.27_28del	ENSP00000415840.2:p.Asn9LysfsTer?
ENST00000433655.5:c.627_628del	ENSP00000404902.1:p.Asn209LysfsTer?
ENST00000438213.5:c.582_583del	ENSP00000415036.1:p.Asn194LysfsTer?
NM_001909.4:c.627_628del	NP_001900.1:p.Asn209LysfsTer?
NM_001909.5:c.627_628del MANE Select	NP_001900.1:p.Asn209LysfsTer?