Canonical Allele Identifier: CA636175856

Gene: CTSA

Linked Data

• gnomAD v2: 20-44520292-G-GC
• gnomAD v4: 20-45891653-G-GC
• MyVariant Identifiers: chr20:g.44520292_44520293insC (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891658dup , CM000682.2:g.45891658dup	GRCh38
NC_000020.10:g.44520297dup , CM000682.1:g.44520297dup	GRCh37
NC_000020.9:g.43953704dup	NCBI36
NG_008291.1:g.5707dup
NG_033108.1:g.4634dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.507dup
ENST00000484855.4:n.140dup
ENST00000493522.8:n.118dup
ENST00000606066.3:n.507dup
ENST00000607187.3:n.507dup
ENST00000607212.3:n.148dup
ENST00000607814.7:n.114dup
ENST00000677755.2:n.38dup
ENST00000678622.2:n.507dup
ENST00000678691.2:n.507dup
ENST00000678988.2:n.1129dup
ENST00000679053.2:n.507dup
ENST00000679343.2:n.507dup
ENST00000684198.1:n.507dup
ENST00000372459.7:c.90dup	ENSP00000361537.2:p.Asp31ArgfsTer?
ENST00000372484.8:c.144dup	ENSP00000361562.3:p.Asp49ArgfsTer?
ENST00000419493.3:c.90dup	ENSP00000408533.3:p.Asp31ArgfsTer?
ENST00000480961.2:n.117dup
ENST00000484855.3:n.140dup
ENST00000493522.7:n.118dup
ENST00000606066.2:n.155dup
ENST00000606394.6:c.144dup	ENSP00000475827.1:p.Asp49ArgfsTer?
ENST00000607187.2:n.21dup
ENST00000607212.2:n.148dup
ENST00000607482.6:c.90dup	ENSP00000475524.2:p.Asp31ArgfsTer?
ENST00000607814.6:n.114dup
ENST00000646241.3:c.90dup MANE Select	ENSP00000493613.2:p.Asp31ArgfsTer?
ENST00000676526.1:c.144dup	ENSP00000504209.1:p.Asp49ArgfsTer?
ENST00000676597.1:c.90dup	ENSP00000503904.1:p.Asp31ArgfsTer?
ENST00000676657.1:c.90dup	ENSP00000504158.1:p.Asp31ArgfsTer?
ENST00000676967.1:c.90dup	ENSP00000502866.1:p.Asp31ArgfsTer?
ENST00000677394.1:c.144dup	ENSP00000504790.1:p.Asp49ArgfsTer?
ENST00000677525.1:c.90dup	ENSP00000504197.1:p.Asp31ArgfsTer?
ENST00000677755.1:n.38dup
ENST00000678025.1:c.90dup	ENSP00000503463.1:p.Asp31ArgfsTer?
ENST00000678078.1:c.144dup	ENSP00000502993.1:p.Asp49ArgfsTer?
ENST00000678217.1:c.90dup	ENSP00000504109.1:p.Asp31ArgfsTer?
ENST00000678331.1:c.90dup	ENSP00000504524.1:p.Asp31ArgfsTer?
ENST00000678443.1:c.90dup	ENSP00000504006.1:p.Asp31ArgfsTer?
ENST00000678512.1:n.127dup
ENST00000678622.1:n.135dup
ENST00000678939.1:c.90dup	ENSP00000503404.1:p.Asp31ArgfsTer?
ENST00000678988.1:n.1129dup
ENST00000679053.1:n.135dup
ENST00000679343.1:n.128dup
ENST00000191018.9:c.90dup	ENSP00000191018.5:p.Asp31ArgfsTer?
ENST00000354880.9:c.144dup	ENSP00000346952.4:p.Asp49ArgfsTer?
ENST00000372459.6:c.90dup	ENSP00000361537.2:p.Asp31ArgfsTer?
ENST00000372484.7:c.144dup	ENSP00000361562.3:p.Asp49ArgfsTer?
ENST00000606066.1:n.135dup
ENST00000606394.5:c.144dup	ENSP00000475827.1:p.Asp49ArgfsTer?
ENST00000606788.5:c.144dup	ENSP00000476235.1:p.Asp49ArgfsTer?
ENST00000607212.1:n.113dup
ENST00000607482.5:c.90dup	ENSP00000475524.1:p.Asp31ArgfsTer?
ENST00000607814.5:n.115dup
ENST00000607841.5:n.135dup
NM_000308.2:c.144dup	NP_000299.2:p.Asp49ArgfsTer?
NM_000308.3:c.144dup	NP_000299.2:p.Asp49ArgfsTer?
NM_001127695.1:c.90dup	NP_001121167.1:p.Asp31ArgfsTer?
NM_001127695.2:c.90dup	NP_001121167.1:p.Asp31ArgfsTer?
NM_001167594.1:c.144dup	NP_001161066.1:p.Asp49ArgfsTer?
NM_001167594.2:c.144dup	NP_001161066.1:p.Asp49ArgfsTer?
NR_133656.1:n.1326dup
NM_000308.4:c.90dup MANE Select	NP_000299.3:p.Asp31ArgfsTer?
NM_001127695.3:c.90dup	NP_001121167.1:p.Asp31ArgfsTer?
NM_001167594.3:c.90dup	NP_001161066.2:p.Asp31ArgfsTer?
NR_133656.2:n.135dup