Canonical Allele Identifier: CA2647835717

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804029-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804030dup , CM000663.2:g.150804030dup	GRCh38
NC_000001.10:g.150776506dup , CM000663.1:g.150776506dup	GRCh37
NC_000001.9:g.149043130dup	NCBI36
NG_011848.1:g.9307dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.609dup MANE Select	ENSP00000271651.3:p.Val204CysfsTer17
ENST00000443913.2:c.786dup	ENSP00000405083.2:p.Val263CysfsTer17
ENST00000480670.2:n.3678dup
ENST00000676680.1:c.609dup	ENSP00000503270.1:p.Val204CysfsTer?
ENST00000676716.1:c.486dup	ENSP00000504737.1:p.Val163CysfsTer17
ENST00000676751.1:c.609dup	ENSP00000502964.1:p.Val204CysfsTer17
ENST00000676824.1:c.609dup	ENSP00000504176.1:p.Val204CysfsTer17
ENST00000676966.1:c.609dup	ENSP00000503723.1:p.Val204CysfsTer17
ENST00000676970.1:c.609dup	ENSP00000503832.1:p.Val204CysfsTer17
ENST00000677330.1:n.2435dup
ENST00000677611.1:n.461dup
ENST00000677887.1:c.651dup	ENSP00000503876.1:p.Val218CysfsTer17
ENST00000678275.1:c.*501dup	ENSP00000504796.1:n.*501dup
ENST00000678337.1:c.645dup	ENSP00000504759.1:p.Val216CysfsTer17
ENST00000678725.1:n.1586dup
ENST00000679090.1:n.1194dup
ENST00000679148.1:n.3571dup
ENST00000679171.1:n.2970dup
ENST00000679260.1:c.399+1831dup	ENSP00000504534.1:n.399+1831dup
ENST00000271651.7:c.609dup	ENSP00000271651.3:p.Val204CysfsTer17
ENST00000480670.1:n.449dup
NM_000396.3:c.609dup	NP_000387.1:p.Val204CysfsTer17
NM_000396.4:c.609dup MANE Select	NP_000387.1:p.Val204CysfsTer17