Canonical Allele Identifier: CA1080505

Gene: CTSK

Linked Data

• dbSNP Id: rs748550606
• ExAC: 1:150776637 AGAGTTT / A
• gnomAD v2: 1-150776637-AGAGTTT-A
• gnomAD v4: 1-150804161-AGAGTTT-A
• MyVariant Identifiers: chr1:g.150776638_150776643del (hg19) ; chr1:g.150804162_150804167del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804163_150804168del , CM000663.2:g.150804163_150804168del	GRCh38
NC_000001.10:g.150776639_150776644del , CM000663.1:g.150776639_150776644del	GRCh37
NC_000001.9:g.149043263_149043268del	NCBI36
NG_011848.1:g.9170_9175del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.472_477del MANE Select	ENSP00000271651.3:p.Lys158_Leu159del
ENST00000443913.2:c.649_654del	ENSP00000405083.2:p.Lys217_Leu218del
ENST00000480670.2:n.3541_3546del
ENST00000676680.1:c.472_477del	ENSP00000503270.1:p.Lys158_Leu159del
ENST00000676716.1:c.349_354del	ENSP00000504737.1:p.Lys117_Leu118del
ENST00000676751.1:c.472_477del	ENSP00000502964.1:p.Lys158_Leu159del
ENST00000676824.1:c.472_477del	ENSP00000504176.1:p.Lys158_Leu159del
ENST00000676966.1:c.472_477del	ENSP00000503723.1:p.Lys158_Leu159del
ENST00000676970.1:c.472_477del	ENSP00000503832.1:p.Lys158_Leu159del
ENST00000677330.1:n.2298_2303del
ENST00000677611.1:n.324_329del
ENST00000677887.1:c.514_519del	ENSP00000503876.1:p.Lys172_Leu173del
ENST00000678275.1:c.*364_*369del	ENSP00000504796.1:n.*364_*369del
ENST00000678337.1:c.508_513del	ENSP00000504759.1:p.Lys170_Leu171del
ENST00000678725.1:n.1449_1454del
ENST00000679090.1:n.1057_1062del
ENST00000679148.1:n.3434_3439del
ENST00000679171.1:n.2833_2838del
ENST00000679260.1:c.399+1694_399+1699del	ENSP00000504534.1:n.399+1694_399+1699del
ENST00000271651.7:c.472_477del	ENSP00000271651.3:p.Lys158_Leu159del
ENST00000443913.1:c.649_654del	ENSP00000405083.1:p.Lys217_Leu218del
ENST00000480670.1:n.312_317del
NM_000396.3:c.472_477del	NP_000387.1:p.Lys158_Leu159del
NM_000396.4:c.472_477del MANE Select	NP_000387.1:p.Lys158_Leu159del