Canonical Allele Identifier: CA16040656
Gene: CTSK HGNC NCBI

Linked Data

ClinVar Variation Id: 370473
ClinVar RCV Id: RCV000409792
dbSNP Id: rs1057516514

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150804216del , CM000663.2:g.150804216del GRCh38
NC_000001.10:g.150776692del , CM000663.1:g.150776692del GRCh37
NC_000001.9:g.149043316del NCBI36
NG_011848.1:g.9124del

Transcript Alleles

HGVS Amino-acid change
ENST00000271651.8:c.426del MANE Select ENSP00000271651.3:p.Phe142LeufsTer19
ENST00000443913.2:c.603del ENSP00000405083.2:p.Phe201LeufsTer19
ENST00000480670.2:n.3495del
ENST00000676680.1:c.426del ENSP00000503270.1:p.Phe142LeufsTer19
ENST00000676716.1:c.303del ENSP00000504737.1:p.Phe101LeufsTer19
ENST00000676751.1:c.426del ENSP00000502964.1:p.Phe142LeufsTer19
ENST00000676824.1:c.426del ENSP00000504176.1:p.Phe142LeufsTer19
ENST00000676966.1:c.426del ENSP00000503723.1:p.Phe142LeufsTer19
ENST00000676970.1:c.426del ENSP00000503832.1:p.Phe142LeufsTer19
ENST00000677330.1:n.2252del
ENST00000677611.1:n.278del
ENST00000677887.1:c.468del ENSP00000503876.1:p.Phe156LeufsTer19
ENST00000678275.1:c.*318del ENSP00000504796.1:n.*318del
ENST00000678337.1:c.462del ENSP00000504759.1:p.Phe154LeufsTer19
ENST00000678725.1:n.1403del
ENST00000679090.1:n.1011del
ENST00000679148.1:n.3388del
ENST00000679171.1:n.2787del
ENST00000679260.1:c.399+1648del ENSP00000504534.1:n.399+1648del
ENST00000271651.7:c.426del ENSP00000271651.3:p.Phe142LeufsTer19
ENST00000443913.1:c.603del ENSP00000405083.1:p.Phe201LeufsTer19
ENST00000480670.1:n.266del
NM_000396.3:c.426del NP_000387.1:p.Phe142LeufsTer19
NM_000396.4:c.426del MANE Select NP_000387.1:p.Phe142LeufsTer19