Canonical Allele Identifier: CA2611928216

Gene: CTSD

Linked Data

• gnomAD v4: 11-1754025-G-GC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1754027dup , CM000673.2:g.1754027dup	GRCh38
NC_000011.9:g.1775257dup , CM000673.1:g.1775257dup	GRCh37
NC_000011.8:g.1731833dup	NCBI36
NG_008655.1:g.14967dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.940dup MANE Select	ENSP00000236671.2:p.Ala314GlyfsTer17
ENST00000367196.4:c.835dup	ENSP00000356164.4:p.Ala279GlyfsTer17
ENST00000427721.3:c.365dup
ENST00000429746.2:c.835dup	ENSP00000402586.2:p.Ala279GlyfsTer17
ENST00000433655.6:c.*106dup	ENSP00000404902.1:n.*106dup
ENST00000438213.6:c.1057dup	ENSP00000415036.2:p.Ala353GlyfsTer17
ENST00000497544.3:n.556dup
ENST00000636397.1:c.940dup	ENSP00000489910.1:p.Ala314GlyfsTer17
ENST00000636571.1:c.919dup	ENSP00000490770.1:p.Ala307GlyfsTer17
ENST00000636615.1:c.940dup	ENSP00000490014.1:p.Ala314GlyfsTer17
ENST00000636843.1:c.934dup	ENSP00000490897.1:p.Ala312GlyfsTer17
ENST00000637158.1:n.538dup
ENST00000637381.2:n.3368dup
ENST00000637387.1:c.940dup	ENSP00000490598.1:p.Ala314GlyfsTer?
ENST00000637815.2:c.922dup	ENSP00000490344.1:p.Ala308GlyfsTer17
ENST00000637915.1:c.940dup	ENSP00000490471.1:p.Ala314GlyfsTer17
ENST00000637937.1:n.248dup
ENST00000678991.1:c.*801dup	ENSP00000503019.1:n.*801dup
ENST00000236671.6:c.940dup	ENSP00000236671.2:p.Ala314GlyfsTer17
ENST00000427721.2:c.340dup	ENSP00000415840.2:p.Ala114GlyfsTer17
ENST00000429746.1:c.271dup	ENSP00000402586.1:p.Ala91GlyfsTer17
ENST00000433655.5:c.*106dup	ENSP00000404902.1:n.*106dup
ENST00000438213.5:c.895dup	ENSP00000415036.1:p.Ala299GlyfsTer?
ENST00000497544.1:n.556dup
NM_001909.4:c.940dup	NP_001900.1:p.Ala314GlyfsTer17
NM_001909.5:c.940dup MANE Select	NP_001900.1:p.Ala314GlyfsTer17