Canonical Allele Identifier: CA9882918
Gene: CTSA HGNC NCBI

Linked Data

ClinVar Variation Id: 1098801
ClinVar RCV Id: RCV001420871
dbSNP Id: rs750928198

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45891628del , CM000682.2:g.45891628del GRCh38
NC_000020.10:g.44520267del , CM000682.1:g.44520267del GRCh37
NC_000020.9:g.43953674del NCBI36
NG_008291.1:g.5677del
NG_033108.1:g.4660del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480961.3:n.477del
ENST00000484855.4:n.110del
ENST00000493522.8:n.88del
ENST00000606066.3:n.477del
ENST00000607187.3:n.477del
ENST00000607212.3:n.118del
ENST00000607814.7:n.84del
ENST00000677755.2:n.8del
ENST00000678622.2:n.477del
ENST00000678691.2:n.477del
ENST00000678988.2:n.1099del
ENST00000679053.2:n.477del
ENST00000679343.2:n.477del
ENST00000684198.1:n.477del
ENST00000372459.7:c.60del ENSP00000361537.2:p.Ser21ProfsTer?
ENST00000372484.8:c.114del ENSP00000361562.3:p.Ser39ProfsTer?
ENST00000419493.3:c.60del ENSP00000408533.3:p.Ser21ProfsTer?
ENST00000480961.2:n.87del
ENST00000484855.3:n.110del
ENST00000493522.7:n.88del
ENST00000606066.2:n.125del
ENST00000606394.6:c.114del ENSP00000475827.1:p.Ser39ProfsTer?
ENST00000607212.2:n.118del
ENST00000607482.6:c.60del ENSP00000475524.2:p.Ser21ProfsTer?
ENST00000607814.6:n.84del
ENST00000646241.3:c.60del MANE Select ENSP00000493613.2:p.Ser21ProfsTer?
ENST00000676526.1:c.114del ENSP00000504209.1:p.Ser39ProfsTer?
ENST00000676597.1:c.60del ENSP00000503904.1:p.Ser21ProfsTer?
ENST00000676657.1:c.60del ENSP00000504158.1:p.Ser21ProfsTer?
ENST00000676967.1:c.60del ENSP00000502866.1:p.Ser21ProfsTer?
ENST00000677394.1:c.114del ENSP00000504790.1:p.Ser39ProfsTer?
ENST00000677525.1:c.60del ENSP00000504197.1:p.Ser21ProfsTer?
ENST00000677755.1:n.8del
ENST00000678025.1:c.60del ENSP00000503463.1:p.Ser21ProfsTer?
ENST00000678078.1:c.114del ENSP00000502993.1:p.Ser39ProfsTer?
ENST00000678217.1:c.60del ENSP00000504109.1:p.Ser21ProfsTer?
ENST00000678331.1:c.60del ENSP00000504524.1:p.Ser21ProfsTer?
ENST00000678443.1:c.60del ENSP00000504006.1:p.Ser21ProfsTer?
ENST00000678512.1:n.97del
ENST00000678622.1:n.105del
ENST00000678939.1:c.60del ENSP00000503404.1:p.Ser21ProfsTer?
ENST00000678988.1:n.1099del
ENST00000679053.1:n.105del
ENST00000679343.1:n.98del
ENST00000191018.9:c.60del ENSP00000191018.5:p.Ser21ProfsTer?
ENST00000354880.9:c.114del ENSP00000346952.4:p.Ser39ProfsTer?
ENST00000372459.6:c.60del ENSP00000361537.2:p.Ser21ProfsTer?
ENST00000372484.7:c.114del ENSP00000361562.3:p.Ser39ProfsTer?
ENST00000606066.1:n.105del
ENST00000606394.5:c.114del ENSP00000475827.1:p.Ser39ProfsTer?
ENST00000606788.5:c.114del ENSP00000476235.1:p.Ser39ProfsTer?
ENST00000607212.1:n.83del
ENST00000607482.5:c.60del ENSP00000475524.1:p.Ser21ProfsTer?
ENST00000607814.5:n.85del
ENST00000607841.5:n.105del
NM_000308.2:c.114del NP_000299.2:p.Ser39ProfsTer?
NM_000308.3:c.114del NP_000299.2:p.Ser39ProfsTer?
NM_001127695.1:c.60del NP_001121167.1:p.Ser21ProfsTer?
NM_001127695.2:c.60del NP_001121167.1:p.Ser21ProfsTer?
NM_001167594.1:c.114del NP_001161066.1:p.Ser39ProfsTer?
NM_001167594.2:c.114del NP_001161066.1:p.Ser39ProfsTer?
NR_133656.1:n.1296del
NM_000308.4:c.60del MANE Select NP_000299.3:p.Ser21ProfsTer?
NM_001127695.3:c.60del NP_001121167.1:p.Ser21ProfsTer?
NM_001167594.3:c.60del NP_001161066.2:p.Ser21ProfsTer?
NR_133656.2:n.105del