Canonical Allele Identifier: CA1080479

Gene: CTSK

Linked Data

• dbSNP Id: rs747542627
• ExAC: 1:150776452 AAGG / A
• gnomAD v2: 1-150776452-AAGG-A
• gnomAD v4: 1-150803976-AAGG-A
• MyVariant Identifiers: chr1:g.150776453_150776455del (hg19) ; chr1:g.150803977_150803979del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150803982_150803984del , CM000663.2:g.150803982_150803984del	GRCh38
NC_000001.10:g.150776458_150776460del , CM000663.1:g.150776458_150776460del	GRCh37
NC_000001.9:g.149043082_149043084del	NCBI36
NG_011848.1:g.9358_9360del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.618+42_618+44del MANE Select	ENSP00000271651.3:n.618+42_618+44del
ENST00000443913.2:c.795+42_795+44del	ENSP00000405083.2:n.795+42_795+44del
ENST00000480670.2:n.3687+42_3687+44del
ENST00000676680.1:c.618+42_618+44del	ENSP00000503270.1:n.618+42_618+44del
ENST00000676716.1:c.495+42_495+44del	ENSP00000504737.1:n.495+42_495+44del
ENST00000676751.1:c.618+42_618+44del	ENSP00000502964.1:n.618+42_618+44del
ENST00000676824.1:c.618+42_618+44del	ENSP00000504176.1:n.618+42_618+44del
ENST00000676966.1:c.618+42_618+44del	ENSP00000503723.1:n.618+42_618+44del
ENST00000676970.1:c.618+42_618+44del	ENSP00000503832.1:n.618+42_618+44del
ENST00000677330.1:n.2444+42_2444+44del
ENST00000677611.1:n.470+42_470+44del
ENST00000677887.1:c.660+42_660+44del	ENSP00000503876.1:n.660+42_660+44del
ENST00000678275.1:c.*510+42_*510+44del	ENSP00000504796.1:n.*510+42_*510+44del
ENST00000678337.1:c.654+42_654+44del	ENSP00000504759.1:n.654+42_654+44del
ENST00000678725.1:n.1595+42_1595+44del
ENST00000679090.1:n.1203+42_1203+44del
ENST00000679148.1:n.3580+42_3580+44del
ENST00000679171.1:n.2979+42_2979+44del
ENST00000679260.1:c.399+1882_399+1884del	ENSP00000504534.1:n.399+1882_399+1884del
ENST00000271651.7:c.618+42_618+44del	ENSP00000271651.3:n.618+42_618+44del
NM_000396.3:c.618+42_618+44del	NP_000387.1:n.618+42_618+44del
NM_000396.4:c.618+42_618+44del MANE Select	NP_000387.1:n.618+42_618+44del