Canonical Allele Identifier: CA2580060999

Gene: CTSK

Linked Data

• ClinVar Variation Id: 1724839
• ClinVar RCV Id: RCV002307898

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804163_150804164insCAATGATGGCT , CM000663.2:g.150804163_150804164insCAATGATGGCT	GRCh38
NC_000001.10:g.150776639_150776640insCAATGATGGCT , CM000663.1:g.150776639_150776640insCAATGATGGCT	GRCh37
NC_000001.9:g.149043263_149043264insCAATGATGGCT	NCBI36
NG_011848.1:g.9173_9174insAGCCATCATTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.475_476insAGCCATCATTG MANE Select	ENSP00000271651.3:p.Leu159GlnfsTer6
ENST00000443913.2:c.652_653insAGCCATCATTG	ENSP00000405083.2:p.Leu218GlnfsTer6
ENST00000480670.2:n.3544_3545insAGCCATCATTG
ENST00000676680.1:c.475_476insAGCCATCATTG	ENSP00000503270.1:p.Leu159GlnfsTer6
ENST00000676716.1:c.352_353insAGCCATCATTG	ENSP00000504737.1:p.Leu118GlnfsTer6
ENST00000676751.1:c.475_476insAGCCATCATTG	ENSP00000502964.1:p.Leu159GlnfsTer6
ENST00000676824.1:c.475_476insAGCCATCATTG	ENSP00000504176.1:p.Leu159GlnfsTer6
ENST00000676966.1:c.475_476insAGCCATCATTG	ENSP00000503723.1:p.Leu159GlnfsTer6
ENST00000676970.1:c.475_476insAGCCATCATTG	ENSP00000503832.1:p.Leu159GlnfsTer6
ENST00000677330.1:n.2301_2302insAGCCATCATTG
ENST00000677611.1:n.327_328insAGCCATCATTG
ENST00000677887.1:c.517_518insAGCCATCATTG	ENSP00000503876.1:p.Leu173GlnfsTer6
ENST00000678275.1:c.*367_*368insAGCCATCATTG	ENSP00000504796.1:n.*367_*368insAGCCATCATTG
ENST00000678337.1:c.511_512insAGCCATCATTG	ENSP00000504759.1:p.Leu171GlnfsTer6
ENST00000678725.1:n.1452_1453insAGCCATCATTG
ENST00000679090.1:n.1060_1061insAGCCATCATTG
ENST00000679148.1:n.3437_3438insAGCCATCATTG
ENST00000679171.1:n.2836_2837insAGCCATCATTG
ENST00000679260.1:c.399+1697_399+1698insAGCCATCATTG	ENSP00000504534.1:n.399+1697_399+1698insAGCCATCATTG
ENST00000271651.7:c.475_476insAGCCATCATTG	ENSP00000271651.3:p.Leu159GlnfsTer6
ENST00000443913.1:c.652_653insAGCCATCATTG	ENSP00000405083.1:p.Leu218GlnfsTer6
ENST00000480670.1:n.315_316insAGCCATCATTG
NM_000396.3:c.475_476insAGCCATCATTG	NP_000387.1:p.Leu159GlnfsTer6
NM_000396.4:c.475_476insAGCCATCATTG MANE Select	NP_000387.1:p.Leu159GlnfsTer6