Canonical Allele Identifier: CA2611926870

Gene: CTSD

Linked Data

• gnomAD v4: 11-1753482-G-GGC

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753488_1753489dup , CM000673.2:g.1753488_1753489dup	GRCh38
NC_000011.9:g.1774718_1774719dup , CM000673.1:g.1774718_1774719dup	GRCh37
NC_000011.8:g.1731294_1731295dup	NCBI36
NG_008655.1:g.15509_15510dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.*19_*20dup MANE Select	ENSP00000236671.2:n.*19_*20dup
ENST00000367196.4:c.*19_*20dup	ENSP00000356164.4:n.*19_*20dup
ENST00000427721.3:c.634+49_634+50dup
ENST00000429746.2:c.*19_*20dup	ENSP00000402586.2:n.*19_*20dup
ENST00000433655.6:c.*424_*425dup	ENSP00000404902.1:n.*424_*425dup
ENST00000438213.6:c.*19_*20dup	ENSP00000415036.2:n.*19_*20dup
ENST00000636397.1:c.1071+319_1071+320dup	ENSP00000489910.1:n.1071+319_1071+320dup
ENST00000636571.1:c.*19_*20dup	ENSP00000490770.1:n.*19_*20dup
ENST00000636579.1:c.72+319_72+320dup	ENSP00000490489.1:n.72+319_72+320dup
ENST00000636615.1:c.1071+319_1071+320dup	ENSP00000490014.1:n.1071+319_1071+320dup
ENST00000636843.1:c.*19_*20dup	ENSP00000490897.1:n.*19_*20dup
ENST00000637158.1:n.856_857dup
ENST00000637381.2:n.3686_3687dup
ENST00000637387.1:c.*19_*20dup	ENSP00000490598.1:n.*19_*20dup
ENST00000637815.2:c.*19_*20dup	ENSP00000490344.1:n.*19_*20dup
ENST00000637915.1:c.*19_*20dup	ENSP00000490471.1:n.*19_*20dup
ENST00000637937.1:n.566_567dup
ENST00000678991.1:c.*1119_*1120dup	ENSP00000503019.1:n.*1119_*1120dup
ENST00000236671.6:c.*19_*20dup	ENSP00000236671.2:n.*19_*20dup
ENST00000427721.2:c.471+319_471+320dup	ENSP00000415840.2:n.471+319_471+320dup
ENST00000429746.1:c.589_590dup	ENSP00000402586.1:n.589_590dup
ENST00000433655.5:c.*424_*425dup	ENSP00000404902.1:n.*424_*425dup
NM_001909.4:c.*19_*20dup	NP_001900.1:n.*19_*20dup
NM_001909.5:c.*19_*20dup MANE Select	NP_001900.1:n.*19_*20dup