Canonical Allele Identifier: CA2653102216

Gene: CTSA

Linked Data

• gnomAD v4: 20-45892845-GTGC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45892848_45892850del , CM000682.2:g.45892848_45892850del	GRCh38
NC_000020.10:g.44521487_44521489del , CM000682.1:g.44521487_44521489del	GRCh37
NC_000020.9:g.43954894_43954896del	NCBI36
NG_008291.1:g.6897_6899del
NG_033108.1:g.3440_3442del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.985_987del
ENST00000484855.4:n.618_620del
ENST00000493522.8:n.596_598del
ENST00000606066.3:n.1059_1061del
ENST00000606782.3:n.689_691del
ENST00000607187.3:n.985_987del
ENST00000607212.3:n.779_781del
ENST00000607814.7:n.1304_1306del
ENST00000677755.2:n.988_990del
ENST00000678622.2:n.985_987del
ENST00000678691.2:n.985_987del
ENST00000678988.2:n.1607_1609del
ENST00000679053.2:n.985_987del
ENST00000679343.2:n.985_987del
ENST00000684198.1:n.985_987del
ENST00000372459.7:c.568_570del	ENSP00000361537.2:p.Leu190del
ENST00000372484.8:c.622_624del	ENSP00000361562.3:p.Leu208del
ENST00000419493.3:c.568_570del	ENSP00000408533.3:p.Leu190del
ENST00000480961.2:n.595_597del
ENST00000484855.3:n.618_620del
ENST00000493522.7:n.596_598del
ENST00000606066.2:n.707_709del
ENST00000606394.6:c.*210_*212del	ENSP00000475827.1:n.*210_*212del
ENST00000606782.2:n.689_691del
ENST00000607187.2:n.499_501del
ENST00000607212.2:n.779_781del
ENST00000607482.6:c.568_570del	ENSP00000475524.2:p.Leu190del
ENST00000607814.6:n.1304_1306del
ENST00000646241.3:c.568_570del MANE Select	ENSP00000493613.2:p.Leu190del
ENST00000676526.1:c.622_624del	ENSP00000504209.1:p.Leu208del
ENST00000676597.1:c.568_570del	ENSP00000503904.1:p.Leu190del
ENST00000676657.1:c.568_570del	ENSP00000504158.1:p.Leu190del
ENST00000676967.1:c.568_570del	ENSP00000502866.1:p.Leu190del
ENST00000677394.1:c.622_624del	ENSP00000504790.1:p.Leu208del
ENST00000677525.1:c.*391_*393del	ENSP00000504197.1:n.*391_*393del
ENST00000677755.1:n.988_990del
ENST00000678025.1:c.568_570del	ENSP00000503463.1:p.Leu190del
ENST00000678078.1:c.622_624del	ENSP00000502993.1:p.Leu208del
ENST00000678217.1:c.568_570del	ENSP00000504109.1:p.Leu190del
ENST00000678331.1:c.568_570del	ENSP00000504524.1:p.Leu190del
ENST00000678443.1:c.568_570del	ENSP00000504006.1:p.Leu190del
ENST00000678512.1:n.832_834del
ENST00000678622.1:n.613_615del
ENST00000678691.1:n.446_448del
ENST00000678939.1:c.568_570del	ENSP00000503404.1:p.Leu190del
ENST00000678988.1:n.1607_1609del
ENST00000679053.1:n.613_615del
ENST00000679343.1:n.606_608del
ENST00000191018.9:c.568_570del	ENSP00000191018.5:p.Leu190del
ENST00000354880.9:c.571_573del	ENSP00000346952.4:p.Leu191del
ENST00000372459.6:c.568_570del	ENSP00000361537.2:p.Leu190del
ENST00000372484.7:c.622_624del	ENSP00000361562.3:p.Leu208del
ENST00000419493.2:c.97_99del	ENSP00000408533.2:p.Leu33del
ENST00000485627.1:n.229_231del
ENST00000606394.5:c.*210_*212del	ENSP00000475827.1:n.*210_*212del
ENST00000606782.1:n.201_203del
ENST00000606788.5:c.622_624del	ENSP00000476235.1:p.Leu208del
NM_000308.2:c.622_624del	NP_000299.2:p.Leu208del
NM_000308.3:c.622_624del	NP_000299.2:p.Leu208del
NM_001127695.1:c.568_570del	NP_001121167.1:p.Leu190del
NM_001127695.2:c.568_570del	NP_001121167.1:p.Leu190del
NM_001167594.1:c.571_573del	NP_001161066.1:p.Leu191del
NM_001167594.2:c.571_573del	NP_001161066.1:p.Leu191del
NR_133656.1:n.1804_1806del
NM_000308.4:c.568_570del MANE Select	NP_000299.3:p.Leu190del
NM_001127695.3:c.568_570del	NP_001121167.1:p.Leu190del
NM_001167594.3:c.517_519del	NP_001161066.2:p.Leu173del
NR_133656.2:n.613_615del