Canonical Allele Identifier: CA2653100716

Gene: CTSA

Linked Data

• gnomAD v4: 20-45891659-GACC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891661_45891663del , CM000682.2:g.45891661_45891663del	GRCh38
NC_000020.10:g.44520300_44520302del , CM000682.1:g.44520300_44520302del	GRCh37
NC_000020.9:g.43953707_43953709del	NCBI36
NG_008291.1:g.5710_5712del
NG_033108.1:g.4626_4628del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.510_512del
ENST00000484855.4:n.143_145del
ENST00000493522.8:n.121_123del
ENST00000606066.3:n.510_512del
ENST00000607187.3:n.510_512del
ENST00000607212.3:n.151_153del
ENST00000607814.7:n.117_119del
ENST00000677755.2:n.41_43del
ENST00000678622.2:n.510_512del
ENST00000678691.2:n.510_512del
ENST00000678988.2:n.1132_1134del
ENST00000679053.2:n.510_512del
ENST00000679343.2:n.510_512del
ENST00000684198.1:n.510_512del
ENST00000372459.7:c.93_95del	ENSP00000361537.2:p.Asp31_Gln32delinsGlu
ENST00000372484.8:c.147_149del	ENSP00000361562.3:p.Asp49_Gln50delinsGlu
ENST00000419493.3:c.93_95del	ENSP00000408533.3:p.Asp31_Gln32delinsGlu
ENST00000480961.2:n.120_122del
ENST00000484855.3:n.143_145del
ENST00000493522.7:n.121_123del
ENST00000606066.2:n.158_160del
ENST00000606394.6:c.147_149del	ENSP00000475827.1:p.Asp49_Gln50delinsGlu
ENST00000607187.2:n.24_26del
ENST00000607212.2:n.151_153del
ENST00000607482.6:c.93_95del	ENSP00000475524.2:p.Asp31_Gln32delinsGlu
ENST00000607814.6:n.117_119del
ENST00000646241.3:c.93_95del MANE Select	ENSP00000493613.2:p.Asp31_Gln32delinsGlu
ENST00000676526.1:c.147_149del	ENSP00000504209.1:p.Asp49_Gln50delinsGlu
ENST00000676597.1:c.93_95del	ENSP00000503904.1:p.Asp31_Gln32delinsGlu
ENST00000676657.1:c.93_95del	ENSP00000504158.1:p.Asp31_Gln32delinsGlu
ENST00000676967.1:c.93_95del	ENSP00000502866.1:p.Asp31_Gln32delinsGlu
ENST00000677394.1:c.147_149del	ENSP00000504790.1:p.Asp49_Gln50delinsGlu
ENST00000677525.1:c.93_95del	ENSP00000504197.1:p.Asp31_Gln32delinsGlu
ENST00000677755.1:n.41_43del
ENST00000678025.1:c.93_95del	ENSP00000503463.1:p.Asp31_Gln32delinsGlu
ENST00000678078.1:c.147_149del	ENSP00000502993.1:p.Asp49_Gln50delinsGlu
ENST00000678217.1:c.93_95del	ENSP00000504109.1:p.Asp31_Gln32delinsGlu
ENST00000678331.1:c.93_95del	ENSP00000504524.1:p.Asp31_Gln32delinsGlu
ENST00000678443.1:c.93_95del	ENSP00000504006.1:p.Asp31_Gln32delinsGlu
ENST00000678512.1:n.130_132del
ENST00000678622.1:n.138_140del
ENST00000678939.1:c.93_95del	ENSP00000503404.1:p.Asp31_Gln32delinsGlu
ENST00000678988.1:n.1132_1134del
ENST00000679053.1:n.138_140del
ENST00000679343.1:n.131_133del
ENST00000191018.9:c.93_95del	ENSP00000191018.5:p.Asp31_Gln32delinsGlu
ENST00000354880.9:c.147_149del	ENSP00000346952.4:p.Asp49_Gln50delinsGlu
ENST00000372459.6:c.93_95del	ENSP00000361537.2:p.Asp31_Gln32delinsGlu
ENST00000372484.7:c.147_149del	ENSP00000361562.3:p.Asp49_Gln50delinsGlu
ENST00000606066.1:n.138_140del
ENST00000606394.5:c.147_149del	ENSP00000475827.1:p.Asp49_Gln50delinsGlu
ENST00000606788.5:c.147_149del	ENSP00000476235.1:p.Asp49_Gln50delinsGlu
ENST00000607212.1:n.116_118del
ENST00000607482.5:c.93_95del	ENSP00000475524.1:p.Asp31_Gln32delinsGlu
ENST00000607814.5:n.118_120del
ENST00000607841.5:n.138_140del
NM_000308.2:c.147_149del	NP_000299.2:p.Asp49_Gln50delinsGlu
NM_000308.3:c.147_149del	NP_000299.2:p.Asp49_Gln50delinsGlu
NM_001127695.1:c.93_95del	NP_001121167.1:p.Asp31_Gln32delinsGlu
NM_001127695.2:c.93_95del	NP_001121167.1:p.Asp31_Gln32delinsGlu
NM_001167594.1:c.147_149del	NP_001161066.1:p.Asp49_Gln50delinsGlu
NM_001167594.2:c.147_149del	NP_001161066.1:p.Asp49_Gln50delinsGlu
NR_133656.1:n.1329_1331del
NM_000308.4:c.93_95del MANE Select	NP_000299.3:p.Asp31_Gln32delinsGlu
NM_001127695.3:c.93_95del	NP_001121167.1:p.Asp31_Gln32delinsGlu
NM_001167594.3:c.93_95del	NP_001161066.2:p.Asp31_Gln32delinsGlu
NR_133656.2:n.138_140del