Canonical Allele Identifier: CA2499214166

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1073792
• ClinVar RCV Id: RCV001386896
• dbSNP Id: rs1654043546
• gnomAD v4: 1-150804145-TG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804149del , CM000663.2:g.150804149del	GRCh38
NC_000001.10:g.150776625del , CM000663.1:g.150776625del	GRCh37
NC_000001.9:g.149043249del	NCBI36
NG_011848.1:g.9191del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.493del MANE Select	ENSP00000271651.3:p.Gln165ArgfsTer3
ENST00000443913.2:c.670del	ENSP00000405083.2:p.Gln224ArgfsTer3
ENST00000480670.2:n.3562del
ENST00000676680.1:c.493del	ENSP00000503270.1:p.Gln165ArgfsTer3
ENST00000676716.1:c.370del	ENSP00000504737.1:p.Gln124ArgfsTer3
ENST00000676751.1:c.493del	ENSP00000502964.1:p.Gln165ArgfsTer3
ENST00000676824.1:c.493del	ENSP00000504176.1:p.Gln165ArgfsTer3
ENST00000676966.1:c.493del	ENSP00000503723.1:p.Gln165ArgfsTer3
ENST00000676970.1:c.493del	ENSP00000503832.1:p.Gln165ArgfsTer3
ENST00000677330.1:n.2319del
ENST00000677611.1:n.345del
ENST00000677887.1:c.535del	ENSP00000503876.1:p.Gln179ArgfsTer3
ENST00000678275.1:c.*385del	ENSP00000504796.1:n.*385del
ENST00000678337.1:c.529del	ENSP00000504759.1:p.Gln177ArgfsTer3
ENST00000678725.1:n.1470del
ENST00000679090.1:n.1078del
ENST00000679148.1:n.3455del
ENST00000679171.1:n.2854del
ENST00000679260.1:c.399+1715del	ENSP00000504534.1:n.399+1715del
ENST00000271651.7:c.493del	ENSP00000271651.3:p.Gln165ArgfsTer3
ENST00000443913.1:c.670del	ENSP00000405083.1:p.Gln224ArgfsTer3
ENST00000480670.1:n.333del
NM_000396.3:c.493del	NP_000387.1:p.Gln165ArgfsTer3
NM_000396.4:c.493del MANE Select	NP_000387.1:p.Gln165ArgfsTer3