Canonical Allele Identifier: CA2647835812

Gene: CTSK

Linked Data

• gnomAD v4: 1-150804202-CCCACAGAG-C

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150804204_150804211del , CM000663.2:g.150804204_150804211del	GRCh38
NC_000001.10:g.150776680_150776687del , CM000663.1:g.150776680_150776687del	GRCh37
NC_000001.9:g.149043304_149043311del	NCBI36
NG_011848.1:g.9127_9134del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000271651.8:c.429_436del MANE Select	ENSP00000271651.3:p.Ser143ArgfsTer28
ENST00000443913.2:c.606_613del	ENSP00000405083.2:p.Ser202ArgfsTer28
ENST00000480670.2:n.3498_3505del
ENST00000676680.1:c.429_436del	ENSP00000503270.1:p.Ser143ArgfsTer28
ENST00000676716.1:c.306_313del	ENSP00000504737.1:p.Ser102ArgfsTer28
ENST00000676751.1:c.429_436del	ENSP00000502964.1:p.Ser143ArgfsTer28
ENST00000676824.1:c.429_436del	ENSP00000504176.1:p.Ser143ArgfsTer28
ENST00000676966.1:c.429_436del	ENSP00000503723.1:p.Ser143ArgfsTer28
ENST00000676970.1:c.429_436del	ENSP00000503832.1:p.Ser143ArgfsTer28
ENST00000677330.1:n.2255_2262del
ENST00000677611.1:n.281_288del
ENST00000677887.1:c.471_478del	ENSP00000503876.1:p.Ser157ArgfsTer28
ENST00000678275.1:c.*321_*328del	ENSP00000504796.1:n.*321_*328del
ENST00000678337.1:c.465_472del	ENSP00000504759.1:p.Ser155ArgfsTer28
ENST00000678725.1:n.1406_1413del
ENST00000679090.1:n.1014_1021del
ENST00000679148.1:n.3391_3398del
ENST00000679171.1:n.2790_2797del
ENST00000679260.1:c.399+1651_399+1658del	ENSP00000504534.1:n.399+1651_399+1658del
ENST00000271651.7:c.429_436del	ENSP00000271651.3:p.Ser143ArgfsTer28
ENST00000443913.1:c.606_613del	ENSP00000405083.1:p.Ser202ArgfsTer28
ENST00000480670.1:n.269_276del
NM_000396.3:c.429_436del	NP_000387.1:p.Ser143ArgfsTer28
NM_000396.4:c.429_436del MANE Select	NP_000387.1:p.Ser143ArgfsTer28