Canonical Allele Identifier: CA16040657
Gene: CTSK HGNC NCBI

Linked Data

ClinVar Variation Id: 370882
ClinVar RCV Id: RCV000411145
dbSNP Id: rs1057516839
MyVariant Identifiers: chr1:g.150778335del (hg19) chr1:g.150805859del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150805859del , CM000663.2:g.150805859del GRCh38
NC_000001.10:g.150778335del , CM000663.1:g.150778335del GRCh37
NC_000001.9:g.149044959del NCBI36
NG_011848.1:g.7478del

Transcript Alleles

HGVS Amino-acid change
ENST00000271651.8:c.399+2del MANE Select ENSP00000271651.3:n.399+2del
ENST00000443913.2:c.576+2del ENSP00000405083.2:n.576+2del
ENST00000480670.2:n.3468+2del
ENST00000676680.1:c.399+2del ENSP00000503270.1:n.399+2del
ENST00000676716.1:c.276+2del ENSP00000504737.1:n.276+2del
ENST00000676751.1:c.399+2del ENSP00000502964.1:n.399+2del
ENST00000676824.1:c.399+2del ENSP00000504176.1:n.399+2del
ENST00000676966.1:c.399+2del ENSP00000503723.1:n.399+2del
ENST00000676970.1:c.399+2del ENSP00000503832.1:n.399+2del
ENST00000677330.1:n.2225+2del
ENST00000677611.1:n.251+2del
ENST00000677887.1:c.441+2del ENSP00000503876.1:n.441+2del
ENST00000678275.1:c.*291+2del ENSP00000504796.1:n.*291+2del
ENST00000678337.1:c.435+2del ENSP00000504759.1:n.435+2del
ENST00000678725.1:n.1376+2del
ENST00000679090.1:n.984+2del
ENST00000679148.1:n.1742del
ENST00000679171.1:n.2760+2del
ENST00000679260.1:c.399+2del ENSP00000504534.1:n.399+2del
ENST00000271651.7:c.399+2del ENSP00000271651.3:n.399+2del
ENST00000443913.1:c.576+2del ENSP00000405083.1:n.576+2del
ENST00000480670.1:n.239+2del
NM_000396.3:c.399+2del NP_000387.1:n.399+2del
NM_000396.4:c.399+2del MANE Select NP_000387.1:n.399+2del
Search 100 bp 5'
Search 100 bp 3'