Canonical Allele Identifier: CA2695199881
Gene: CTSK HGNC NCBI

Linked Data

ClinVar Variation Id: 2681031
ClinVar RCV Id: RCV003468566

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.150804050_150804051del , CM000663.2:g.150804050_150804051del GRCh38
NC_000001.10:g.150776526_150776527del , CM000663.1:g.150776526_150776527del GRCh37
NC_000001.9:g.149043150_149043151del NCBI36
NG_011848.1:g.9288_9289del

Transcript Alleles

HGVS Amino-acid Change
ENST00000271651.8:c.590_591del MANE Select ENSP00000271651.3:p.Ser197Ter
ENST00000443913.2:c.767_768del ENSP00000405083.2:p.Ser256Ter
ENST00000480670.2:n.3659_3660del
ENST00000676680.1:c.590_591del ENSP00000503270.1:p.Ser197Ter
ENST00000676716.1:c.467_468del ENSP00000504737.1:p.Ser156Ter
ENST00000676751.1:c.590_591del ENSP00000502964.1:p.Ser197Ter
ENST00000676824.1:c.590_591del ENSP00000504176.1:p.Ser197Ter
ENST00000676966.1:c.590_591del ENSP00000503723.1:p.Ser197Ter
ENST00000676970.1:c.590_591del ENSP00000503832.1:p.Ser197Ter
ENST00000677330.1:n.2416_2417del
ENST00000677611.1:n.442_443del
ENST00000677887.1:c.632_633del ENSP00000503876.1:p.Ser211Ter
ENST00000678275.1:c.*482_*483del ENSP00000504796.1:n.*482_*483del
ENST00000678337.1:c.626_627del ENSP00000504759.1:p.Ser209Ter
ENST00000678725.1:n.1567_1568del
ENST00000679090.1:n.1175_1176del
ENST00000679148.1:n.3552_3553del
ENST00000679171.1:n.2951_2952del
ENST00000679260.1:c.399+1812_399+1813del ENSP00000504534.1:n.399+1812_399+1813del
ENST00000271651.7:c.590_591del ENSP00000271651.3:p.Ser197Ter
ENST00000443913.1:c.767_768del ENSP00000405083.1:p.Ser256Ter
ENST00000480670.1:n.430_431del
NM_000396.3:c.590_591del NP_000387.1:p.Ser197Ter
NM_000396.4:c.590_591del MANE Select NP_000387.1:p.Ser197Ter