Canonical Allele Identifier: CA2366420668

Gene: CTSA

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891620_45891622delinsCTG , CM000682.2:g.45891620_45891622delinsCTG	GRCh38
NC_000020.10:g.44520259_44520261delinsCTG , CM000682.1:g.44520259_44520261delinsCTG	GRCh37
NC_000020.9:g.43953666_43953668delinsCTG	NCBI36
NG_008291.1:g.5669_5671delinsCTG
NG_033108.1:g.4666_4668delinsCAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.469_471delinsCTG
ENST00000484855.4:n.102_104delinsCTG
ENST00000493522.8:n.80_82delinsCTG
ENST00000606066.3:n.469_471delinsCTG
ENST00000607187.3:n.469_471delinsCTG
ENST00000607212.3:n.110_112delinsCTG
ENST00000607814.7:n.76_78delinsCTG
ENST00000678622.2:n.469_471delinsCTG
ENST00000678691.2:n.469_471delinsCTG
ENST00000678988.2:n.1091_1093delinsCTG
ENST00000679053.2:n.469_471delinsCTG
ENST00000679343.2:n.469_471delinsCTG
ENST00000684198.1:n.469_471delinsCTG
ENST00000372459.7:c.52_54delinsCTG	ENSP00000361537.2:p.Leu18=
ENST00000372484.8:c.106_108delinsCTG	ENSP00000361562.3:p.Leu36=
ENST00000419493.3:c.52_54delinsCTG	ENSP00000408533.3:p.Leu18=
ENST00000480961.2:n.79_81delinsCTG
ENST00000484855.3:n.102_104delinsCTG
ENST00000493522.7:n.80_82delinsCTG
ENST00000606066.2:n.117_119delinsCTG
ENST00000606394.6:c.106_108delinsCTG	ENSP00000475827.1:p.Leu36=
ENST00000607212.2:n.110_112delinsCTG
ENST00000607482.6:c.52_54delinsCTG	ENSP00000475524.2:p.Leu18=
ENST00000607814.6:n.76_78delinsCTG
ENST00000646241.3:c.52_54delinsCTG MANE Select	ENSP00000493613.2:p.Leu18=
ENST00000676526.1:c.106_108delinsCTG	ENSP00000504209.1:p.Leu36=
ENST00000676597.1:c.52_54delinsCTG	ENSP00000503904.1:p.Leu18=
ENST00000676657.1:c.52_54delinsCTG	ENSP00000504158.1:p.Leu18=
ENST00000676967.1:c.52_54delinsCTG	ENSP00000502866.1:p.Leu18=
ENST00000677394.1:c.106_108delinsCTG	ENSP00000504790.1:p.Leu36=
ENST00000677525.1:c.52_54delinsCTG	ENSP00000504197.1:p.Leu18=
ENST00000678025.1:c.52_54delinsCTG	ENSP00000503463.1:p.Leu18=
ENST00000678078.1:c.106_108delinsCTG	ENSP00000502993.1:p.Leu36=
ENST00000678217.1:c.52_54delinsCTG	ENSP00000504109.1:p.Leu18=
ENST00000678331.1:c.52_54delinsCTG	ENSP00000504524.1:p.Leu18=
ENST00000678443.1:c.52_54delinsCTG	ENSP00000504006.1:p.Leu18=
ENST00000678512.1:n.89_91delinsCTG
ENST00000678622.1:n.97_99delinsCTG
ENST00000678939.1:c.52_54delinsCTG	ENSP00000503404.1:p.Leu18=
ENST00000678988.1:n.1091_1093delinsCTG
ENST00000679053.1:n.97_99delinsCTG
ENST00000679343.1:n.90_92delinsCTG
ENST00000191018.9:c.52_54delinsCTG	ENSP00000191018.5:p.Leu18=
ENST00000354880.9:c.106_108delinsCTG	ENSP00000346952.4:p.Leu36=
ENST00000372459.6:c.52_54delinsCTG	ENSP00000361537.2:p.Leu18=
ENST00000372484.7:c.106_108delinsCTG	ENSP00000361562.3:p.Leu36=
ENST00000606066.1:n.97_99delinsCTG
ENST00000606394.5:c.106_108delinsCTG	ENSP00000475827.1:p.Leu36=
ENST00000606788.5:c.106_108delinsCTG	ENSP00000476235.1:p.Leu36=
ENST00000607212.1:n.75_77delinsCTG
ENST00000607482.5:c.52_54delinsCTG	ENSP00000475524.1:p.Leu18=
ENST00000607814.5:n.77_79delinsCTG
ENST00000607841.5:n.97_99delinsCTG
NM_000308.2:c.106_108delinsCTG	NP_000299.2:p.Leu36=
NM_000308.3:c.106_108delinsCTG	NP_000299.2:p.Leu36=
NM_001127695.1:c.52_54delinsCTG	NP_001121167.1:p.Leu18=
NM_001127695.2:c.52_54delinsCTG	NP_001121167.1:p.Leu18=
NM_001167594.1:c.106_108delinsCTG	NP_001161066.1:p.Leu36=
NM_001167594.2:c.106_108delinsCTG	NP_001161066.1:p.Leu36=
NR_133656.1:n.1288_1290delinsCTG
NM_000308.4:c.52_54delinsCTG MANE Select	NP_000299.3:p.Leu18=
NM_001127695.3:c.52_54delinsCTG	NP_001121167.1:p.Leu18=
NM_001167594.3:c.52_54delinsCTG	NP_001161066.2:p.Leu18=
NR_133656.2:n.97_99delinsCTG