Canonical Allele Identifier: CA16040654
Gene: CTSK HGNC NCBI

Linked Data

ClinVar Variation Id: 370951
ClinVar RCV Id: RCV000409568
dbSNP Id: rs1057516891
MyVariant Identifiers: chr1:g.150772156del (hg19) chr1:g.150799680del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150799680del , CM000663.2:g.150799680del GRCh38
NC_000001.10:g.150772156del , CM000663.1:g.150772156del GRCh37
NC_000001.9:g.149038780del NCBI36
NG_011848.1:g.13657del

Transcript Alleles

HGVS Amino-acid change
ENST00000271651.8:c.648del MANE Select ENSP00000271651.3:p.Lys217ArgfsTer19
ENST00000443913.2:c.825del ENSP00000405083.2:p.Lys276ArgfsTer19
ENST00000480670.2:n.3717del
ENST00000676680.1:c.644del ENSP00000503270.1:p.Ala215GlufsTer4
ENST00000676716.1:c.525del ENSP00000504737.1:p.Lys176ArgfsTer19
ENST00000676751.1:c.648del ENSP00000502964.1:p.Lys217ArgfsTer19
ENST00000676824.1:c.648del ENSP00000504176.1:p.Lys217ArgfsTer19
ENST00000676966.1:c.648del ENSP00000503723.1:p.Lys217ArgfsTer19
ENST00000676970.1:c.648del ENSP00000503832.1:p.Lys217ArgfsTer19
ENST00000677330.1:n.2474del
ENST00000677611.1:n.500del
ENST00000677887.1:c.690del ENSP00000503876.1:p.Lys231ArgfsTer19
ENST00000678275.1:c.*540del ENSP00000504796.1:n.*540del
ENST00000678337.1:c.684del ENSP00000504759.1:p.Lys229ArgfsTer19
ENST00000678725.1:n.1625del
ENST00000679090.1:n.1233del
ENST00000679148.1:n.3610del
ENST00000679171.1:n.3009del
ENST00000679178.1:n.359del
ENST00000679260.1:c.429del ENSP00000504534.1:p.Lys144ArgfsTer19
ENST00000271651.7:c.648del ENSP00000271651.3:p.Lys217ArgfsTer19
NM_000396.3:c.648del NP_000387.1:p.Lys217ArgfsTer19
NM_000396.4:c.648del MANE Select NP_000387.1:p.Lys217ArgfsTer19
Search 100 bp 5'
Search 100 bp 3'