Canonical Allele Identifier: CA636175857

Gene: CTSA

Linked Data

• dbSNP Id: rs1209237972
• gnomAD v2: 20-44520296-CCGA-C
• gnomAD v4: 20-45891657-CCGA-C
• MyVariant Identifiers: chr20:g.44520297_44520299del (hg19) ; chr20:g.45891658_45891660del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891659_45891661del , CM000682.2:g.45891659_45891661del	GRCh38
NC_000020.10:g.44520298_44520300del , CM000682.1:g.44520298_44520300del	GRCh37
NC_000020.9:g.43953705_43953707del	NCBI36
NG_008291.1:g.5708_5710del
NG_033108.1:g.4628_4630del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.508_510del
ENST00000484855.4:n.141_143del
ENST00000493522.8:n.119_121del
ENST00000606066.3:n.508_510del
ENST00000607187.3:n.508_510del
ENST00000607212.3:n.149_151del
ENST00000607814.7:n.115_117del
ENST00000677755.2:n.39_41del
ENST00000678622.2:n.508_510del
ENST00000678691.2:n.508_510del
ENST00000678988.2:n.1130_1132del
ENST00000679053.2:n.508_510del
ENST00000679343.2:n.508_510del
ENST00000684198.1:n.508_510del
ENST00000372459.7:c.91_93del	ENSP00000361537.2:p.Asp31del
ENST00000372484.8:c.145_147del	ENSP00000361562.3:p.Asp49del
ENST00000419493.3:c.91_93del	ENSP00000408533.3:p.Asp31del
ENST00000480961.2:n.118_120del
ENST00000484855.3:n.141_143del
ENST00000493522.7:n.119_121del
ENST00000606066.2:n.156_158del
ENST00000606394.6:c.145_147del	ENSP00000475827.1:p.Asp49del
ENST00000607187.2:n.22_24del
ENST00000607212.2:n.149_151del
ENST00000607482.6:c.91_93del	ENSP00000475524.2:p.Asp31del
ENST00000607814.6:n.115_117del
ENST00000646241.3:c.91_93del MANE Select	ENSP00000493613.2:p.Asp31del
ENST00000676526.1:c.145_147del	ENSP00000504209.1:p.Asp49del
ENST00000676597.1:c.91_93del	ENSP00000503904.1:p.Asp31del
ENST00000676657.1:c.91_93del	ENSP00000504158.1:p.Asp31del
ENST00000676967.1:c.91_93del	ENSP00000502866.1:p.Asp31del
ENST00000677394.1:c.145_147del	ENSP00000504790.1:p.Asp49del
ENST00000677525.1:c.91_93del	ENSP00000504197.1:p.Asp31del
ENST00000677755.1:n.39_41del
ENST00000678025.1:c.91_93del	ENSP00000503463.1:p.Asp31del
ENST00000678078.1:c.145_147del	ENSP00000502993.1:p.Asp49del
ENST00000678217.1:c.91_93del	ENSP00000504109.1:p.Asp31del
ENST00000678331.1:c.91_93del	ENSP00000504524.1:p.Asp31del
ENST00000678443.1:c.91_93del	ENSP00000504006.1:p.Asp31del
ENST00000678512.1:n.128_130del
ENST00000678622.1:n.136_138del
ENST00000678939.1:c.91_93del	ENSP00000503404.1:p.Asp31del
ENST00000678988.1:n.1130_1132del
ENST00000679053.1:n.136_138del
ENST00000679343.1:n.129_131del
ENST00000191018.9:c.91_93del	ENSP00000191018.5:p.Asp31del
ENST00000354880.9:c.145_147del	ENSP00000346952.4:p.Asp49del
ENST00000372459.6:c.91_93del	ENSP00000361537.2:p.Asp31del
ENST00000372484.7:c.145_147del	ENSP00000361562.3:p.Asp49del
ENST00000606066.1:n.136_138del
ENST00000606394.5:c.145_147del	ENSP00000475827.1:p.Asp49del
ENST00000606788.5:c.145_147del	ENSP00000476235.1:p.Asp49del
ENST00000607212.1:n.114_116del
ENST00000607482.5:c.91_93del	ENSP00000475524.1:p.Asp31del
ENST00000607814.5:n.116_118del
ENST00000607841.5:n.136_138del
NM_000308.2:c.145_147del	NP_000299.2:p.Asp49del
NM_000308.3:c.145_147del	NP_000299.2:p.Asp49del
NM_001127695.1:c.91_93del	NP_001121167.1:p.Asp31del
NM_001127695.2:c.91_93del	NP_001121167.1:p.Asp31del
NM_001167594.1:c.145_147del	NP_001161066.1:p.Asp49del
NM_001167594.2:c.145_147del	NP_001161066.1:p.Asp49del
NR_133656.1:n.1327_1329del
NM_000308.4:c.91_93del MANE Select	NP_000299.3:p.Asp31del
NM_001127695.3:c.91_93del	NP_001121167.1:p.Asp31del
NM_001167594.3:c.91_93del	NP_001161066.2:p.Asp31del
NR_133656.2:n.136_138del