Canonical Allele Identifier: CA2611926734

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753415-G-GGT

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753423_1753424dup , CM000673.2:g.1753423_1753424dup	GRCh38
NC_000011.9:g.1774653_1774654dup , CM000673.1:g.1774653_1774654dup	GRCh37
NC_000011.8:g.1731229_1731230dup	NCBI36
NG_008655.1:g.15576_15577dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*86_*87dup MANE Select	ENSP00000236671.2:n.*86_*87dup
ENST00000367196.4:c.*86_*87dup	ENSP00000356164.4:n.*86_*87dup
ENST00000427721.3:c.634+116_634+117dup
ENST00000429746.2:c.*86_*87dup	ENSP00000402586.2:n.*86_*87dup
ENST00000433655.6:c.*491_*492dup	ENSP00000404902.1:n.*491_*492dup
ENST00000438213.6:c.*86_*87dup	ENSP00000415036.2:n.*86_*87dup
ENST00000636397.1:c.1071+386_1071+387dup	ENSP00000489910.1:n.1071+386_1071+387dup
ENST00000636571.1:c.*86_*87dup	ENSP00000490770.1:n.*86_*87dup
ENST00000636579.1:c.72+386_72+387dup	ENSP00000490489.1:n.72+386_72+387dup
ENST00000636615.1:c.1071+386_1071+387dup	ENSP00000490014.1:n.1071+386_1071+387dup
ENST00000636843.1:c.*86_*87dup	ENSP00000490897.1:n.*86_*87dup
ENST00000637158.1:n.923_924dup
ENST00000637381.2:n.3753_3754dup
ENST00000637387.1:c.*86_*87dup	ENSP00000490598.1:n.*86_*87dup
ENST00000637815.2:c.*86_*87dup	ENSP00000490344.1:n.*86_*87dup
ENST00000637915.1:c.*86_*87dup	ENSP00000490471.1:n.*86_*87dup
ENST00000637937.1:n.633_634dup
ENST00000678991.1:c.*1186_*1187dup	ENSP00000503019.1:n.*1186_*1187dup
ENST00000236671.6:c.*86_*87dup	ENSP00000236671.2:n.*86_*87dup
ENST00000427721.2:c.471+386_471+387dup	ENSP00000415840.2:n.471+386_471+387dup
ENST00000429746.1:c.656_657dup	ENSP00000402586.1:n.656_657dup
ENST00000433655.5:c.*491_*492dup	ENSP00000404902.1:n.*491_*492dup
NM_001909.4:c.*86_*87dup	NP_001900.1:n.*86_*87dup
NM_001909.5:c.*86_*87dup MANE Select	NP_001900.1:n.*86_*87dup