Canonical Allele Identifier: CA2580061016
Gene: CTSK HGNC NCBI

Linked Data

ClinVar Variation Id: 1724320
ClinVar RCV Id: RCV002309588

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150806694del , CM000663.2:g.150806694del GRCh38
NC_000001.10:g.150779170del , CM000663.1:g.150779170del GRCh37
NC_000001.9:g.149045794del NCBI36
NG_011848.1:g.6644del

Transcript Alleles

HGVS Amino-acid change
ENST00000271651.8:c.113del MANE Select ENSP00000271651.3:p.Asn38ThrfsTer11
ENST00000443913.2:c.290del ENSP00000405083.2:p.Asn97ThrfsTer11
ENST00000480670.2:n.2721del
ENST00000676680.1:c.113del ENSP00000503270.1:p.Asn38ThrfsTer11
ENST00000676716.1:c.113del ENSP00000504737.1:p.Asn38ThrfsTer12
ENST00000676751.1:c.113del ENSP00000502964.1:p.Asn38ThrfsTer11
ENST00000676824.1:c.113del ENSP00000504176.1:p.Asn38ThrfsTer11
ENST00000676966.1:c.113del ENSP00000503723.1:p.Asn38ThrfsTer11
ENST00000676970.1:c.113del ENSP00000503832.1:p.Asn38ThrfsTer11
ENST00000677330.1:n.1478del
ENST00000677887.1:c.155del ENSP00000503876.1:p.Asn52ThrfsTer11
ENST00000678275.1:c.113del ENSP00000504796.1:p.Asn38ThrfsTer19
ENST00000678337.1:c.149del ENSP00000504759.1:p.Asn50ThrfsTer11
ENST00000678725.1:n.1090del
ENST00000679090.1:n.237del
ENST00000679148.1:n.993del
ENST00000679171.1:n.2013del
ENST00000679260.1:c.113del ENSP00000504534.1:p.Asn38ThrfsTer11
ENST00000271651.7:c.113del ENSP00000271651.3:p.Asn38ThrfsTer11
ENST00000443913.1:c.290del ENSP00000405083.1:p.Asn97ThrfsTer11
ENST00000480670.1:n.76del
NM_000396.3:c.113del NP_000387.1:p.Asn38ThrfsTer11
NM_000396.4:c.113del MANE Select NP_000387.1:p.Asn38ThrfsTer11