Canonical Allele Identifier: CA5813849

Gene: CTSD

Linked Data

• dbSNP Id: rs754912144
• ExAC: 11:1774687 T / TG
• gnomAD v2: 11-1774687-T-TG
• gnomAD v4: 11-1753457-T-TG
• MyVariant Identifiers: chr11:g.1774687_1774688insG (hg19) ; chr11:g.1753457_1753458insG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753460dup , CM000673.2:g.1753460dup	GRCh38
NC_000011.9:g.1774690dup , CM000673.1:g.1774690dup	GRCh37
NC_000011.8:g.1731266dup	NCBI36
NG_008655.1:g.15535dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000236671.7:c.*45dup MANE Select	ENSP00000236671.2:n.*45dup
ENST00000367196.4:c.*45dup	ENSP00000356164.4:n.*45dup
ENST00000427721.3:c.634+75dup
ENST00000429746.2:c.*45dup	ENSP00000402586.2:n.*45dup
ENST00000433655.6:c.*450dup	ENSP00000404902.1:n.*450dup
ENST00000438213.6:c.*45dup	ENSP00000415036.2:n.*45dup
ENST00000636397.1:c.1071+345dup	ENSP00000489910.1:n.1071+345dup
ENST00000636571.1:c.*45dup	ENSP00000490770.1:n.*45dup
ENST00000636579.1:c.72+345dup	ENSP00000490489.1:n.72+345dup
ENST00000636615.1:c.1071+345dup	ENSP00000490014.1:n.1071+345dup
ENST00000636843.1:c.*45dup	ENSP00000490897.1:n.*45dup
ENST00000637158.1:n.882dup
ENST00000637381.2:n.3712dup
ENST00000637387.1:c.*45dup	ENSP00000490598.1:n.*45dup
ENST00000637815.2:c.*45dup	ENSP00000490344.1:n.*45dup
ENST00000637915.1:c.*45dup	ENSP00000490471.1:n.*45dup
ENST00000637937.1:n.592dup
ENST00000678991.1:c.*1145dup	ENSP00000503019.1:n.*1145dup
ENST00000236671.6:c.*45dup	ENSP00000236671.2:n.*45dup
ENST00000427721.2:c.471+345dup	ENSP00000415840.2:n.471+345dup
ENST00000429746.1:c.615dup	ENSP00000402586.1:n.615dup
ENST00000433655.5:c.*450dup	ENSP00000404902.1:n.*450dup
NM_001909.4:c.*45dup	NP_001900.1:n.*45dup
NM_001909.5:c.*45dup MANE Select	NP_001900.1:n.*45dup