Canonical Allele Identifier: CA2366421240
Gene: CTSA HGNC NCBI

Linked Data

dbSNP Id: rs1987042661

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.45892851_45892854dup , CM000682.2:g.45892851_45892854dup GRCh38
NC_000020.10:g.44521490_44521493dup , CM000682.1:g.44521490_44521493dup GRCh37
NC_000020.9:g.43954897_43954900dup NCBI36
NG_008291.1:g.6900_6903dup
NG_033108.1:g.3434_3437dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000480961.3:n.988_991dup
ENST00000484855.4:n.621_624dup
ENST00000493522.8:n.599_602dup
ENST00000606066.3:n.1062_1065dup
ENST00000606782.3:n.692_695dup
ENST00000607187.3:n.988_991dup
ENST00000607212.3:n.782_785dup
ENST00000607814.7:n.1307_1310dup
ENST00000677755.2:n.991_994dup
ENST00000678622.2:n.988_991dup
ENST00000678691.2:n.988_991dup
ENST00000678988.2:n.1610_1613dup
ENST00000679053.2:n.988_991dup
ENST00000679343.2:n.988_991dup
ENST00000684198.1:n.988_991dup
ENST00000372459.7:c.571_574dup ENSP00000361537.2:p.Met192SerfsTer22
ENST00000372484.8:c.625_628dup ENSP00000361562.3:p.Met210SerfsTer22
ENST00000419493.3:c.571_574dup ENSP00000408533.3:p.Met192SerfsTer22
ENST00000480961.2:n.598_601dup
ENST00000484855.3:n.621_624dup
ENST00000493522.7:n.599_602dup
ENST00000606066.2:n.710_713dup
ENST00000606394.6:c.*213_*216dup ENSP00000475827.1:n.*213_*216dup
ENST00000606782.2:n.692_695dup
ENST00000607187.2:n.502_505dup
ENST00000607212.2:n.782_785dup
ENST00000607482.6:c.571_574dup ENSP00000475524.2:p.Met192SerfsTer22
ENST00000607814.6:n.1307_1310dup
ENST00000646241.3:c.571_574dup MANE Select ENSP00000493613.2:p.Met192SerfsTer22
ENST00000676526.1:c.625_628dup ENSP00000504209.1:p.Met210SerfsTer?
ENST00000676597.1:c.571_574dup ENSP00000503904.1:p.Met192SerfsTer22
ENST00000676657.1:c.571_574dup ENSP00000504158.1:p.Met192SerfsTer?
ENST00000676967.1:c.571_574dup ENSP00000502866.1:p.Met192SerfsTer?
ENST00000677394.1:c.625_628dup ENSP00000504790.1:p.Met210SerfsTer22
ENST00000677525.1:c.*394_*397dup ENSP00000504197.1:n.*394_*397dup
ENST00000677755.1:n.991_994dup
ENST00000678025.1:c.571_574dup ENSP00000503463.1:p.Met192SerfsTer?
ENST00000678078.1:c.625_628dup ENSP00000502993.1:p.Met210SerfsTer?
ENST00000678217.1:c.571_574dup ENSP00000504109.1:p.Met192SerfsTer22
ENST00000678331.1:c.571_574dup ENSP00000504524.1:p.Met192SerfsTer22
ENST00000678443.1:c.571_574dup ENSP00000504006.1:p.Met192SerfsTer22
ENST00000678512.1:n.835_838dup
ENST00000678622.1:n.616_619dup
ENST00000678691.1:n.449_452dup
ENST00000678939.1:c.571_574dup ENSP00000503404.1:p.Met192SerfsTer22
ENST00000678988.1:n.1610_1613dup
ENST00000679053.1:n.616_619dup
ENST00000679343.1:n.609_612dup
ENST00000191018.9:c.571_574dup ENSP00000191018.5:p.Met192SerfsTer22
ENST00000354880.9:c.574_577dup ENSP00000346952.4:p.Met193SerfsTer22
ENST00000372459.6:c.571_574dup ENSP00000361537.2:p.Met192SerfsTer22
ENST00000372484.7:c.625_628dup ENSP00000361562.3:p.Met210SerfsTer22
ENST00000419493.2:c.100_103dup ENSP00000408533.2:p.Met35SerfsTer22
ENST00000485627.1:n.232_235dup
ENST00000606394.5:c.*213_*216dup ENSP00000475827.1:n.*213_*216dup
ENST00000606782.1:n.204_207dup
ENST00000606788.5:c.625_628dup ENSP00000476235.1:p.Met210SerfsTer?
NM_000308.2:c.625_628dup NP_000299.2:p.Met210SerfsTer22
NM_000308.3:c.625_628dup NP_000299.2:p.Met210SerfsTer22
NM_001127695.1:c.571_574dup NP_001121167.1:p.Met192SerfsTer22
NM_001127695.2:c.571_574dup NP_001121167.1:p.Met192SerfsTer22
NM_001167594.1:c.574_577dup NP_001161066.1:p.Met193SerfsTer22
NM_001167594.2:c.574_577dup NP_001161066.1:p.Met193SerfsTer22
NR_133656.1:n.1807_1810dup
NM_000308.4:c.571_574dup MANE Select NP_000299.3:p.Met192SerfsTer22
NM_001127695.3:c.571_574dup NP_001121167.1:p.Met192SerfsTer22
NM_001167594.3:c.520_523dup NP_001161066.2:p.Met175SerfsTer22
NR_133656.2:n.616_619dup