Canonical Allele Identifier: CA526062933

Gene: CTSK

Linked Data

• dbSNP Id: rs1188553930
• gnomAD v2: 1-150779156-AG-A
• gnomAD v3: 1-150806680-AG-A
• gnomAD v4: 1-150806680-AG-A
• MyVariant Identifiers: chr1:g.150779157del (hg19) ; chr1:g.150806681del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.150806682del , CM000663.2:g.150806682del	GRCh38
NC_000001.10:g.150779158del , CM000663.1:g.150779158del	GRCh37
NC_000001.9:g.149045782del	NCBI36
NG_011848.1:g.6656del

Transcript Alleles

HGVS	Amino-acid change
ENST00000271651.8:c.120+5del MANE Select	ENSP00000271651.3:n.120+5del
ENST00000443913.2:c.297+5del	ENSP00000405083.2:n.297+5del
ENST00000480670.2:n.2733del
ENST00000676680.1:c.120+5del	ENSP00000503270.1:n.120+5del
ENST00000676716.1:c.120+5del	ENSP00000504737.1:n.120+5del
ENST00000676751.1:c.120+5del	ENSP00000502964.1:n.120+5del
ENST00000676824.1:c.120+5del	ENSP00000504176.1:n.120+5del
ENST00000676966.1:c.120+5del	ENSP00000503723.1:n.120+5del
ENST00000676970.1:c.120+5del	ENSP00000503832.1:n.120+5del
ENST00000677330.1:n.1490del
ENST00000677887.1:c.162+5del	ENSP00000503876.1:n.162+5del
ENST00000678275.1:c.120+5del	ENSP00000504796.1:n.120+5del
ENST00000678337.1:c.156+5del	ENSP00000504759.1:n.156+5del
ENST00000678725.1:n.1097+5del
ENST00000679090.1:n.249del
ENST00000679148.1:n.1005del
ENST00000679171.1:n.2025del
ENST00000679260.1:c.120+5del	ENSP00000504534.1:n.120+5del
ENST00000271651.7:c.120+5del	ENSP00000271651.3:n.120+5del
ENST00000443913.1:c.297+5del	ENSP00000405083.1:n.297+5del
ENST00000480670.1:n.83+5del
NM_000396.3:c.120+5del	NP_000387.1:n.120+5del
NM_000396.4:c.120+5del MANE Select	NP_000387.1:n.120+5del