Canonical Allele Identifier: CA597430545
Gene: CTSD HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.1753630_1753631insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAG , CM000673.2:g.1753630_1753631insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAG GRCh38
NC_000011.9:g.1774860_1774861insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAG , CM000673.1:g.1774860_1774861insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAG GRCh37
NC_000011.8:g.1731436_1731437insCTGGTAGGCCTGCTCTGAGGGTCCCCGAGAGCAGAAATAGCCTCTGTTCGAG NCBI36
NG_008655.1:g.15362_15363insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000236671.7:c.1111_1112insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG MANE Select ENSP00000236671.2:p.Met371ThrfsTer45
ENST00000367196.4:c.1006_1007insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000356164.4:p.Met336ThrfsTer45
ENST00000427721.3:c.536_537insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
ENST00000429746.2:c.1006_1007insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000402586.2:p.Met336ThrfsTer45
ENST00000433655.6:c.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000404902.1:n.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGG...
ENST00000438213.6:c.1228_1229insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000415036.2:p.Met410ThrfsTer45
ENST00000636397.1:c.1071+172_1071+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000489910.1:n.1071+172_1071+173insCTCGAACAGAGGCTATTTCTG...
ENST00000636571.1:c.1090_1091insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490770.1:p.Met364ThrfsTer45
ENST00000636579.1:c.72+172_72+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490489.1:n.72+172_72+173insCTCGAACAGAGGCTATTTCTGCTCT...
ENST00000636615.1:c.1071+172_1071+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490014.1:n.1071+172_1071+173insCTCGAACAGAGGCTATTTCTG...
ENST00000636843.1:c.1105_1106insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490897.1:p.Met369ThrfsTer45
ENST00000637158.1:n.709_710insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
ENST00000637381.2:n.3539_3540insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
ENST00000637387.1:c.1090_1091insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490598.1:p.Met364ThrfsTer45
ENST00000637815.2:c.1093_1094insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490344.1:p.Met365ThrfsTer45
ENST00000637915.1:c.1102_1103insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000490471.1:p.Met368ThrfsTer45
ENST00000637937.1:n.419_420insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG
ENST00000678991.1:c.*972_*973insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000503019.1:n.*972_*973insCTCGAACAGAGGCTATTTCTGCTCTCGGG...
ENST00000236671.6:c.1111_1112insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000236671.2:p.Met371ThrfsTer45
ENST00000427721.2:c.471+172_471+173insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000415840.2:n.471+172_471+173insCTCGAACAGAGGCTATTTCTGCT...
ENST00000429746.1:c.442_443insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000402586.1:p.Met148ThrfsTer45
ENST00000433655.5:c.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG ENSP00000404902.1:n.*277_*278insCTCGAACAGAGGCTATTTCTGCTCTCGGG...
NM_001909.4:c.1111_1112insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG NP_001900.1:p.Met371ThrfsTer45
NM_001909.5:c.1111_1112insCTCGAACAGAGGCTATTTCTGCTCTCGGGGACCCTCAGAGCAGGCCTACCAG MANE Select NP_001900.1:p.Met371ThrfsTer45