Canonical Allele Identifier: CA16040655

Gene: CTSK

Linked Data

• ClinVar Variation Id: 370610
• ClinVar RCV Id: RCV000411707
• dbSNP Id: rs1057516627
• MyVariant Identifiers: chr1:g.150776665_150776692del (hg19) ; chr1:g.150804189_150804216del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804193_150804220del , CM000663.2:g.150804193_150804220del	GRCh38
NC_000001.10:g.150776669_150776696del , CM000663.1:g.150776669_150776696del	GRCh37
NC_000001.9:g.149043293_149043320del	NCBI36
NG_011848.1:g.9121_9148del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.423_450del MANE Select	ENSP00000271651.3:p.Phe142AsnfsTer10
ENST00000443913.2:c.600_627del	ENSP00000405083.2:p.Phe201AsnfsTer10
ENST00000480670.2:n.3492_3519del
ENST00000676680.1:c.423_450del	ENSP00000503270.1:p.Phe142AsnfsTer10
ENST00000676716.1:c.300_327del	ENSP00000504737.1:p.Phe101AsnfsTer10
ENST00000676751.1:c.423_450del	ENSP00000502964.1:p.Phe142AsnfsTer10
ENST00000676824.1:c.423_450del	ENSP00000504176.1:p.Phe142AsnfsTer10
ENST00000676966.1:c.423_450del	ENSP00000503723.1:p.Phe142AsnfsTer10
ENST00000676970.1:c.423_450del	ENSP00000503832.1:p.Phe142AsnfsTer10
ENST00000677330.1:n.2249_2276del
ENST00000677611.1:n.275_302del
ENST00000677887.1:c.465_492del	ENSP00000503876.1:p.Phe156AsnfsTer10
ENST00000678275.1:c.*315_*342del	ENSP00000504796.1:n.*315_*342del
ENST00000678337.1:c.459_486del	ENSP00000504759.1:p.Phe154AsnfsTer10
ENST00000678725.1:n.1400_1427del
ENST00000679090.1:n.1008_1035del
ENST00000679148.1:n.3385_3412del
ENST00000679171.1:n.2784_2811del
ENST00000679260.1:c.399+1645_399+1672del	ENSP00000504534.1:n.399+1645_399+1672del
ENST00000271651.7:c.423_450del	ENSP00000271651.3:p.Phe142AsnfsTer10
ENST00000443913.1:c.600_627del	ENSP00000405083.1:p.Phe201AsnfsTer10
ENST00000480670.1:n.263_290del
NM_000396.3:c.423_450del	NP_000387.1:p.Phe142AsnfsTer10
NM_000396.4:c.423_450del MANE Select	NP_000387.1:p.Phe142AsnfsTer10