Canonical Allele Identifier: CA9882911
Gene: CTSA HGNC NCBI

Linked Data

ClinVar Variation Id: 558864
ClinVar RCV Id: RCV000675490
dbSNP Id: rs564815597

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45891619del , CM000682.2:g.45891619del GRCh38
NC_000020.10:g.44520258del , CM000682.1:g.44520258del GRCh37
NC_000020.9:g.43953665del NCBI36
NG_008291.1:g.5668del
NG_033108.1:g.4669del

Transcript Alleles

HGVS Amino-acid Change
ENST00000480961.3:n.468del
ENST00000484855.4:n.101del
ENST00000493522.8:n.79del
ENST00000606066.3:n.468del
ENST00000607187.3:n.468del
ENST00000607212.3:n.109del
ENST00000607814.7:n.75del
ENST00000678622.2:n.468del
ENST00000678691.2:n.468del
ENST00000678988.2:n.1090del
ENST00000679053.2:n.468del
ENST00000679343.2:n.468del
ENST00000684198.1:n.468del
ENST00000372459.7:c.51del ENSP00000361537.2:p.Leu18CysfsTer2
ENST00000372484.8:c.105del ENSP00000361562.3:p.Leu36CysfsTer2
ENST00000419493.3:c.51del ENSP00000408533.3:p.Leu18CysfsTer2
ENST00000480961.2:n.78del
ENST00000484855.3:n.101del
ENST00000493522.7:n.79del
ENST00000606066.2:n.116del
ENST00000606394.6:c.105del ENSP00000475827.1:p.Leu36CysfsTer2
ENST00000607212.2:n.109del
ENST00000607482.6:c.51del ENSP00000475524.2:p.Leu18CysfsTer2
ENST00000607814.6:n.75del
ENST00000646241.3:c.51del MANE Select ENSP00000493613.2:p.Leu18CysfsTer2
ENST00000676526.1:c.105del ENSP00000504209.1:p.Leu36CysfsTer2
ENST00000676597.1:c.51del ENSP00000503904.1:p.Leu18CysfsTer2
ENST00000676657.1:c.51del ENSP00000504158.1:p.Leu18CysfsTer2
ENST00000676967.1:c.51del ENSP00000502866.1:p.Leu18CysfsTer2
ENST00000677394.1:c.105del ENSP00000504790.1:p.Leu36CysfsTer2
ENST00000677525.1:c.51del ENSP00000504197.1:p.Leu18CysfsTer2
ENST00000678025.1:c.51del ENSP00000503463.1:p.Leu18CysfsTer2
ENST00000678078.1:c.105del ENSP00000502993.1:p.Leu36CysfsTer2
ENST00000678217.1:c.51del ENSP00000504109.1:p.Leu18CysfsTer2
ENST00000678331.1:c.51del ENSP00000504524.1:p.Leu18CysfsTer2
ENST00000678443.1:c.51del ENSP00000504006.1:p.Leu18CysfsTer2
ENST00000678512.1:n.88del
ENST00000678622.1:n.96del
ENST00000678939.1:c.51del ENSP00000503404.1:p.Leu18CysfsTer2
ENST00000678988.1:n.1090del
ENST00000679053.1:n.96del
ENST00000679343.1:n.89del
ENST00000191018.9:c.51del ENSP00000191018.5:p.Leu18CysfsTer2
ENST00000354880.9:c.105del ENSP00000346952.4:p.Leu36CysfsTer2
ENST00000372459.6:c.51del ENSP00000361537.2:p.Leu18CysfsTer2
ENST00000372484.7:c.105del ENSP00000361562.3:p.Leu36CysfsTer2
ENST00000606066.1:n.96del
ENST00000606394.5:c.105del ENSP00000475827.1:p.Leu36CysfsTer2
ENST00000606788.5:c.105del ENSP00000476235.1:p.Leu36CysfsTer2
ENST00000607212.1:n.74del
ENST00000607482.5:c.51del ENSP00000475524.1:p.Leu18CysfsTer2
ENST00000607814.5:n.76del
ENST00000607841.5:n.96del
NM_000308.2:c.105del NP_000299.2:p.Leu36CysfsTer2
NM_000308.3:c.105del NP_000299.2:p.Leu36CysfsTer2
NM_001127695.1:c.51del NP_001121167.1:p.Leu18CysfsTer2
NM_001127695.2:c.51del NP_001121167.1:p.Leu18CysfsTer2
NM_001167594.1:c.105del NP_001161066.1:p.Leu36CysfsTer2
NM_001167594.2:c.105del NP_001161066.1:p.Leu36CysfsTer2
NR_133656.1:n.1287del
NM_000308.4:c.51del MANE Select NP_000299.3:p.Leu18CysfsTer2
NM_001127695.3:c.51del NP_001121167.1:p.Leu18CysfsTer2
NM_001167594.3:c.51del NP_001161066.2:p.Leu18CysfsTer2
NR_133656.2:n.96del