Canonical Allele Identifier: CA2499214169

Gene: CTSK

Linked Data

• ClinVar Variation Id: 981511
• ClinVar RCV Id: RCV001374474
• dbSNP Id: rs2101951682

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804237del , CM000663.2:g.150804237del	GRCh38
NC_000001.10:g.150776713del , CM000663.1:g.150776713del	GRCh37
NC_000001.9:g.149043337del	NCBI36
NG_011848.1:g.9100del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.402del MANE Select	ENSP00000271651.3:p.Gln135SerfsTer26
ENST00000443913.2:c.579del	ENSP00000405083.2:p.Gln194SerfsTer26
ENST00000480670.2:n.3471del
ENST00000676680.1:c.402del	ENSP00000503270.1:p.Gln135SerfsTer26
ENST00000676716.1:c.279del	ENSP00000504737.1:p.Gln94SerfsTer26
ENST00000676751.1:c.402del	ENSP00000502964.1:p.Gln135SerfsTer26
ENST00000676824.1:c.402del	ENSP00000504176.1:p.Gln135SerfsTer26
ENST00000676966.1:c.402del	ENSP00000503723.1:p.Gln135SerfsTer26
ENST00000676970.1:c.402del	ENSP00000503832.1:p.Gln135SerfsTer26
ENST00000677330.1:n.2228del
ENST00000677611.1:n.254del
ENST00000677887.1:c.444del	ENSP00000503876.1:p.Gln149SerfsTer26
ENST00000678275.1:c.*294del	ENSP00000504796.1:n.*294del
ENST00000678337.1:c.438del	ENSP00000504759.1:p.Gln147SerfsTer26
ENST00000678725.1:n.1379del
ENST00000679090.1:n.987del
ENST00000679148.1:n.3364del
ENST00000679171.1:n.2763del
ENST00000679260.1:c.399+1624del	ENSP00000504534.1:n.399+1624del
ENST00000271651.7:c.402del	ENSP00000271651.3:p.Gln135SerfsTer26
ENST00000443913.1:c.579del	ENSP00000405083.1:p.Gln194SerfsTer26
ENST00000480670.1:n.242del
NM_000396.3:c.402del	NP_000387.1:p.Gln135SerfsTer26
NM_000396.4:c.402del MANE Select	NP_000387.1:p.Gln135SerfsTer26