Canonical Allele Identifier: CA2697547404

Gene: CTSA

Linked Data

• ClinVar Variation Id: 2747132
• ClinVar RCV Id: RCV003495093

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891996_45891999del , CM000682.2:g.45891996_45891999del	GRCh38
NC_000020.10:g.44520635_44520638del , CM000682.1:g.44520635_44520638del	GRCh37
NC_000020.9:g.43954042_43954045del	NCBI36
NG_008291.1:g.6045_6048del
NG_033108.1:g.4290_4293del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.692_695del
ENST00000484855.4:n.325_328del
ENST00000493522.8:n.303_306del
ENST00000606066.3:n.692_695del
ENST00000606782.3:n.151_154del
ENST00000607187.3:n.692_695del
ENST00000607212.3:n.486_489del
ENST00000607814.7:n.452_455del
ENST00000677755.2:n.376_379del
ENST00000678622.2:n.692_695del
ENST00000678691.2:n.692_695del
ENST00000678988.2:n.1314_1317del
ENST00000679053.2:n.692_695del
ENST00000679343.2:n.692_695del
ENST00000684198.1:n.692_695del
ENST00000372459.7:c.275_278del	ENSP00000361537.2:p.Asp92GlyfsTer27
ENST00000372484.8:c.329_332del	ENSP00000361562.3:p.Asp110GlyfsTer27
ENST00000419493.3:c.275_278del	ENSP00000408533.3:p.Asp92GlyfsTer27
ENST00000480961.2:n.302_305del
ENST00000484855.3:n.325_328del
ENST00000493522.7:n.303_306del
ENST00000606066.2:n.340_343del
ENST00000606394.6:c.248+234_248+237del	ENSP00000475827.1:n.248+234_248+237del
ENST00000606782.2:n.151_154del
ENST00000607187.2:n.206_209del
ENST00000607212.2:n.486_489del
ENST00000607482.6:c.275_278del	ENSP00000475524.2:p.Asp92GlyfsTer27
ENST00000607814.6:n.452_455del
ENST00000646241.3:c.275_278del MANE Select	ENSP00000493613.2:p.Asp92GlyfsTer27
ENST00000676526.1:c.329_332del	ENSP00000504209.1:p.Asp110GlyfsTer27
ENST00000676597.1:c.275_278del	ENSP00000503904.1:p.Asp92GlyfsTer27
ENST00000676657.1:c.275_278del	ENSP00000504158.1:p.Asp92GlyfsTer27
ENST00000676967.1:c.275_278del	ENSP00000502866.1:p.Asp92GlyfsTer27
ENST00000677394.1:c.329_332del	ENSP00000504790.1:p.Asp110GlyfsTer27
ENST00000677525.1:c.*98_*101del	ENSP00000504197.1:n.*98_*101del
ENST00000677755.1:n.376_379del
ENST00000678025.1:c.275_278del	ENSP00000503463.1:p.Asp92GlyfsTer27
ENST00000678078.1:c.329_332del	ENSP00000502993.1:p.Asp110GlyfsTer27
ENST00000678217.1:c.275_278del	ENSP00000504109.1:p.Asp92GlyfsTer27
ENST00000678331.1:c.275_278del	ENSP00000504524.1:p.Asp92GlyfsTer27
ENST00000678443.1:c.275_278del	ENSP00000504006.1:p.Asp92GlyfsTer27
ENST00000678512.1:n.465_468del
ENST00000678622.1:n.320_323del
ENST00000678691.1:n.153_156del
ENST00000678939.1:c.275_278del	ENSP00000503404.1:p.Asp92GlyfsTer27
ENST00000678988.1:n.1314_1317del
ENST00000679053.1:n.320_323del
ENST00000679343.1:n.313_316del
ENST00000191018.9:c.275_278del	ENSP00000191018.5:p.Asp92GlyfsTer27
ENST00000354880.9:c.329_332del	ENSP00000346952.4:p.Asp110GlyfsTer10
ENST00000372459.6:c.275_278del	ENSP00000361537.2:p.Asp92GlyfsTer27
ENST00000372484.7:c.329_332del	ENSP00000361562.3:p.Asp110GlyfsTer27
ENST00000606066.1:n.320_323del
ENST00000606394.5:c.248+234_248+237del	ENSP00000475827.1:n.248+234_248+237del
ENST00000606788.5:c.329_332del	ENSP00000476235.1:p.Asp110GlyfsTer27
ENST00000607212.1:n.451_454del
ENST00000607482.5:c.275_278del	ENSP00000475524.1:p.Asp92GlyfsTer?
ENST00000607814.5:n.453_456del
ENST00000607841.5:n.320_323del
NM_000308.2:c.329_332del	NP_000299.2:p.Asp110GlyfsTer27
NM_000308.3:c.329_332del	NP_000299.2:p.Asp110GlyfsTer27
NM_001127695.1:c.275_278del	NP_001121167.1:p.Asp92GlyfsTer27
NM_001127695.2:c.275_278del	NP_001121167.1:p.Asp92GlyfsTer27
NM_001167594.1:c.329_332del	NP_001161066.1:p.Asp110GlyfsTer10
NM_001167594.2:c.329_332del	NP_001161066.1:p.Asp110GlyfsTer10
NR_133656.1:n.1511_1514del
NM_000308.4:c.275_278del MANE Select	NP_000299.3:p.Asp92GlyfsTer27
NM_001127695.3:c.275_278del	NP_001121167.1:p.Asp92GlyfsTer27
NM_001167594.3:c.275_278del	NP_001161066.2:p.Asp92GlyfsTer10
NR_133656.2:n.320_323del