Canonical Allele Identifier: CA2611927668

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753882-TTC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753885_1753886del , CM000673.2:g.1753885_1753886del	GRCh38
NC_000011.9:g.1775115_1775116del , CM000673.1:g.1775115_1775116del	GRCh37
NC_000011.8:g.1731691_1731692del	NCBI36
NG_008655.1:g.15109_15110del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.990_991del MANE Select	ENSP00000236671.2:p.Lys331GlyfsTer?
ENST00000367196.4:c.885_886del	ENSP00000356164.4:p.Lys296GlyfsTer?
ENST00000427721.3:c.415_416del
ENST00000429746.2:c.885_886del	ENSP00000402586.2:p.Lys296GlyfsTer?
ENST00000433655.6:c.*156_*157del	ENSP00000404902.1:n.*156_*157del
ENST00000438213.6:c.1107_1108del	ENSP00000415036.2:p.Lys370GlyfsTer?
ENST00000497544.3:n.698_699del
ENST00000636397.1:c.990_991del	ENSP00000489910.1:p.Lys331GlyfsTer?
ENST00000636571.1:c.969_970del	ENSP00000490770.1:p.Lys324GlyfsTer?
ENST00000636615.1:c.990_991del	ENSP00000490014.1:p.Lys331GlyfsTer?
ENST00000636843.1:c.984_985del	ENSP00000490897.1:p.Lys329GlyfsTer?
ENST00000637158.1:n.588_589del
ENST00000637381.2:n.3418_3419del
ENST00000637387.1:c.973-4_973-3del	ENSP00000490598.1:n.973-4_973-3del
ENST00000637815.2:c.972_973del	ENSP00000490344.1:p.Lys325GlyfsTer?
ENST00000637915.1:c.990_991del	ENSP00000490471.1:p.Lys331GlyfsTer?
ENST00000637937.1:n.298_299del
ENST00000678991.1:c.*851_*852del	ENSP00000503019.1:n.*851_*852del
ENST00000236671.6:c.990_991del	ENSP00000236671.2:p.Lys331GlyfsTer?
ENST00000427721.2:c.390_391del	ENSP00000415840.2:p.Lys131GlyfsTer?
ENST00000429746.1:c.321_322del	ENSP00000402586.1:p.Lys108GlyfsTer?
ENST00000433655.5:c.*156_*157del	ENSP00000404902.1:n.*156_*157del
ENST00000497544.1:n.698_699del
NM_001909.4:c.990_991del	NP_001900.1:p.Lys331GlyfsTer?
NM_001909.5:c.990_991del MANE Select	NP_001900.1:p.Lys331GlyfsTer?