Canonical Allele Identifier: CA658821137

Gene: CTSK

Linked Data

• ClinVar Variation Id: 551101
• ClinVar RCV Id: RCV000666069
• dbSNP Id: rs1553197239

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804062_150804063delinsC , CM000663.2:g.150804062_150804063delinsC	GRCh38
NC_000001.10:g.150776538_150776539delinsC , CM000663.1:g.150776538_150776539delinsC	GRCh37
NC_000001.9:g.149043162_149043163delinsC	NCBI36
NG_011848.1:g.9274_9275delinsG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.576_577delinsG MANE Select	ENSP00000271651.3:p.Asn192LysfsTer?
ENST00000443913.2:c.753_754delinsG	ENSP00000405083.2:p.Asn251LysfsTer?
ENST00000480670.2:n.3645_3646delinsG
ENST00000676680.1:c.576_577delinsG	ENSP00000503270.1:p.Asn192LysfsTer27
ENST00000676716.1:c.453_454delinsG	ENSP00000504737.1:p.Asn151LysfsTer?
ENST00000676751.1:c.576_577delinsG	ENSP00000502964.1:p.Asn192LysfsTer?
ENST00000676824.1:c.576_577delinsG	ENSP00000504176.1:p.Asn192LysfsTer?
ENST00000676966.1:c.576_577delinsG	ENSP00000503723.1:p.Asn192LysfsTer?
ENST00000676970.1:c.576_577delinsG	ENSP00000503832.1:p.Asn192LysfsTer?
ENST00000677330.1:n.2402_2403delinsG
ENST00000677611.1:n.428_429delinsG
ENST00000677887.1:c.618_619delinsG	ENSP00000503876.1:p.Asn206LysfsTer?
ENST00000678275.1:c.*468_*469delinsG	ENSP00000504796.1:n.*468_*469delinsG
ENST00000678337.1:c.612_613delinsG	ENSP00000504759.1:p.Asn204LysfsTer?
ENST00000678725.1:n.1553_1554delinsG
ENST00000679090.1:n.1161_1162delinsG
ENST00000679148.1:n.3538_3539delinsG
ENST00000679171.1:n.2937_2938delinsG
ENST00000679260.1:c.399+1798_399+1799delinsG	ENSP00000504534.1:n.399+1798_399+1799delinsG
ENST00000271651.7:c.576_577delinsG	ENSP00000271651.3:p.Asn192LysfsTer?
ENST00000443913.1:c.753_754delinsG	ENSP00000405083.1:p.Asn251LysfsTer?
ENST00000480670.1:n.416_417delinsG
NM_000396.3:c.576_577delinsG	NP_000387.1:p.Asn192LysfsTer?
NM_000396.4:c.576_577delinsG MANE Select	NP_000387.1:p.Asn192LysfsTer?