Canonical Allele Identifier: CA2647835720

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804044-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804046dup , CM000663.2:g.150804046dup	GRCh38
NC_000001.10:g.150776522dup , CM000663.1:g.150776522dup	GRCh37
NC_000001.9:g.149043146dup	NCBI36
NG_011848.1:g.9292dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.594dup MANE Select	ENSP00000271651.3:p.Asp199ArgfsTer22
ENST00000443913.2:c.771dup	ENSP00000405083.2:p.Asp258ArgfsTer22
ENST00000480670.2:n.3663dup
ENST00000676680.1:c.594dup	ENSP00000503270.1:p.Asp199ArgfsTer?
ENST00000676716.1:c.471dup	ENSP00000504737.1:p.Asp158ArgfsTer22
ENST00000676751.1:c.594dup	ENSP00000502964.1:p.Asp199ArgfsTer22
ENST00000676824.1:c.594dup	ENSP00000504176.1:p.Asp199ArgfsTer22
ENST00000676966.1:c.594dup	ENSP00000503723.1:p.Asp199ArgfsTer22
ENST00000676970.1:c.594dup	ENSP00000503832.1:p.Asp199ArgfsTer22
ENST00000677330.1:n.2420dup
ENST00000677611.1:n.446dup
ENST00000677887.1:c.636dup	ENSP00000503876.1:p.Asp213ArgfsTer22
ENST00000678275.1:c.*486dup	ENSP00000504796.1:n.*486dup
ENST00000678337.1:c.630dup	ENSP00000504759.1:p.Asp211ArgfsTer22
ENST00000678725.1:n.1571dup
ENST00000679090.1:n.1179dup
ENST00000679148.1:n.3556dup
ENST00000679171.1:n.2955dup
ENST00000679260.1:c.399+1816dup	ENSP00000504534.1:n.399+1816dup
ENST00000271651.7:c.594dup	ENSP00000271651.3:p.Asp199ArgfsTer22
ENST00000443913.1:c.771dup	ENSP00000405083.1:p.Asp258ArgfsTer?
ENST00000480670.1:n.434dup
NM_000396.3:c.594dup	NP_000387.1:p.Asp199ArgfsTer22
NM_000396.4:c.594dup MANE Select	NP_000387.1:p.Asp199ArgfsTer22