Canonical Allele Identifier: CA2611925606

Gene: CTSD

Linked Data

• gnomAD v4: 11-1759564-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1759566del , CM000673.2:g.1759566del	GRCh38
NC_000011.9:g.1780796del , CM000673.1:g.1780796del	GRCh37
NC_000011.8:g.1737372del	NCBI36
NG_008655.1:g.9428del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.303del MANE Select	ENSP00000236671.2:p.Asn102ThrfsTer?
ENST00000367196.4:c.198del	ENSP00000356164.4:p.Asn67ThrfsTer?
ENST00000429746.2:c.198del	ENSP00000402586.2:p.Asn67ThrfsTer?
ENST00000433655.6:c.303del	ENSP00000404902.1:p.Asn102ThrfsTer?
ENST00000438213.6:c.303del	ENSP00000415036.2:p.Asn102ThrfsTer?
ENST00000636397.1:c.303del	ENSP00000489910.1:p.Asn102ThrfsTer?
ENST00000636571.1:c.282del	ENSP00000490770.1:p.Asn95ThrfsTer?
ENST00000636615.1:c.303del	ENSP00000490014.1:p.Asn102ThrfsTer?
ENST00000636843.1:c.297del	ENSP00000490897.1:p.Asn100ThrfsTer?
ENST00000637381.2:n.2731del
ENST00000637387.1:c.303del	ENSP00000490598.1:p.Asn102ThrfsTer?
ENST00000637815.2:c.303del	ENSP00000490344.1:p.Asn102ThrfsTer?
ENST00000637915.1:c.303del	ENSP00000490471.1:p.Asn102ThrfsTer?
ENST00000677300.1:n.698del
ENST00000678991.1:c.*164del	ENSP00000503019.1:n.*164del
ENST00000236671.6:c.303del	ENSP00000236671.2:p.Asn102ThrfsTer?
ENST00000367196.3:c.198del	ENSP00000356164.3:p.Asn67ThrfsTer?
ENST00000433655.5:c.303del	ENSP00000404902.1:p.Asn102ThrfsTer?
ENST00000438213.5:c.258del	ENSP00000415036.1:p.Asn87ThrfsTer?
NM_001909.4:c.303del	NP_001900.1:p.Asn102ThrfsTer?
NM_001909.5:c.303del MANE Select	NP_001900.1:p.Asn102ThrfsTer?