Canonical Allele Identifier: CA5813906

Gene: CTSD

Linked Data

• dbSNP Id: rs778619975
• ExAC: 11:1774925 C / CCCA
• gnomAD v2: 11-1774925-C-CCCA
• gnomAD v4: 11-1753695-C-CCCA
• MyVariant Identifiers: chr11:g.1774925_1774926insCCA (hg19) ; chr11:g.1753695_1753696insCCA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.1753696_1753698dup , CM000673.2:g.1753696_1753698dup	GRCh38
NC_000011.9:g.1774926_1774928dup , CM000673.1:g.1774926_1774928dup	GRCh37
NC_000011.8:g.1731502_1731504dup	NCBI36
NG_008655.1:g.15295_15297dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000236671.7:c.1072-28_1072-26dup MANE Select	ENSP00000236671.2:n.1072-28_1072-26dup
ENST00000367196.4:c.967-28_967-26dup	ENSP00000356164.4:n.967-28_967-26dup
ENST00000427721.3:c.497-28_497-26dup
ENST00000429746.2:c.967-28_967-26dup	ENSP00000402586.2:n.967-28_967-26dup
ENST00000433655.6:c.*238-28_*238-26dup	ENSP00000404902.1:n.*238-28_*238-26dup
ENST00000438213.6:c.1189-28_1189-26dup	ENSP00000415036.2:n.1189-28_1189-26dup
ENST00000497544.3:n.780-28_780-26dup
ENST00000636397.1:c.1071+105_1071+107dup	ENSP00000489910.1:n.1071+105_1071+107dup
ENST00000636571.1:c.1051-28_1051-26dup	ENSP00000490770.1:n.1051-28_1051-26dup
ENST00000636579.1:c.72+105_72+107dup	ENSP00000490489.1:n.72+105_72+107dup
ENST00000636615.1:c.1071+105_1071+107dup	ENSP00000490014.1:n.1071+105_1071+107dup
ENST00000636843.1:c.1066-28_1066-26dup	ENSP00000490897.1:n.1066-28_1066-26dup
ENST00000637158.1:n.670-28_670-26dup
ENST00000637381.2:n.3500-28_3500-26dup
ENST00000637387.1:c.1051-28_1051-26dup	ENSP00000490598.1:n.1051-28_1051-26dup
ENST00000637815.2:c.1054-28_1054-26dup	ENSP00000490344.1:n.1054-28_1054-26dup
ENST00000637915.1:c.1072-37_1072-35dup	ENSP00000490471.1:n.1072-37_1072-35dup
ENST00000637937.1:n.380-28_380-26dup
ENST00000678991.1:c.*933-28_*933-26dup	ENSP00000503019.1:n.*933-28_*933-26dup
ENST00000236671.6:c.1072-28_1072-26dup	ENSP00000236671.2:n.1072-28_1072-26dup
ENST00000427721.2:c.471+105_471+107dup	ENSP00000415840.2:n.471+105_471+107dup
ENST00000429746.1:c.403-28_403-26dup	ENSP00000402586.1:n.403-28_403-26dup
ENST00000433655.5:c.*238-28_*238-26dup	ENSP00000404902.1:n.*238-28_*238-26dup
NM_001909.4:c.1072-28_1072-26dup	NP_001900.1:n.1072-28_1072-26dup
NM_001909.5:c.1072-28_1072-26dup MANE Select	NP_001900.1:n.1072-28_1072-26dup