Canonical Allele Identifier: CA9882897

Gene: CTSA

Linked Data

• ClinVar Variation Id: 632780
• ClinVar RCV Id: RCV000780204 ; RCV000954191 ; RCV003334008 ; RCV003928268
• dbSNP Id: rs72555383
• ExAC: 20:44520237 C / CCTG
• gnomAD v2: 20-44520237-C-CCTG
• gnomAD v3: 20-45891598-C-CCTG
• gnomAD v4: 20-45891598-C-CCTG
• COSMIC: COSM4603162
• MyVariant Identifiers: chr20:g.44520249_44520250insCTG (hg19) ; chr20:g.44520246_44520247insCTG (hg19) ; chr20:g.44520243_44520244insCTG (hg19) ; chr20:g.44520237_44520238insCTG (hg19) ; chr20:g.45891607_45891608insCTG (hg38) ; chr20:g.45891598_45891599insCTG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891622_45891624dup , CM000682.2:g.45891622_45891624dup	GRCh38
NC_000020.10:g.44520261_44520263dup , CM000682.1:g.44520261_44520263dup	GRCh37
NC_000020.9:g.43953668_43953670dup	NCBI36
NG_008291.1:g.5671_5673dup
NG_033108.1:g.4687_4689dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.471_473dup
ENST00000484855.4:n.104_106dup
ENST00000493522.8:n.82_84dup
ENST00000606066.3:n.471_473dup
ENST00000607187.3:n.471_473dup
ENST00000607212.3:n.112_114dup
ENST00000607814.7:n.78_80dup
ENST00000678622.2:n.471_473dup
ENST00000678691.2:n.471_473dup
ENST00000678988.2:n.1093_1095dup
ENST00000679053.2:n.471_473dup
ENST00000679343.2:n.471_473dup
ENST00000684198.1:n.471_473dup
ENST00000372459.7:c.54_56dup	ENSP00000361537.2:p.Leu19_Val20insLeu
ENST00000372484.8:c.108_110dup	ENSP00000361562.3:p.Leu37_Val38insLeu
ENST00000419493.3:c.54_56dup	ENSP00000408533.3:p.Leu19_Val20insLeu
ENST00000480961.2:n.81_83dup
ENST00000484855.3:n.104_106dup
ENST00000493522.7:n.82_84dup
ENST00000606066.2:n.119_121dup
ENST00000606394.6:c.108_110dup	ENSP00000475827.1:p.Leu37_Val38insLeu
ENST00000607212.2:n.112_114dup
ENST00000607482.6:c.54_56dup	ENSP00000475524.2:p.Leu19_Val20insLeu
ENST00000607814.6:n.78_80dup
ENST00000646241.3:c.54_56dup MANE Select	ENSP00000493613.2:p.Leu19_Val20insLeu
ENST00000676526.1:c.108_110dup	ENSP00000504209.1:p.Leu37_Val38insLeu
ENST00000676597.1:c.54_56dup	ENSP00000503904.1:p.Leu19_Val20insLeu
ENST00000676657.1:c.54_56dup	ENSP00000504158.1:p.Leu19_Val20insLeu
ENST00000676967.1:c.54_56dup	ENSP00000502866.1:p.Leu19_Val20insLeu
ENST00000677394.1:c.108_110dup	ENSP00000504790.1:p.Leu37_Val38insLeu
ENST00000677525.1:c.54_56dup	ENSP00000504197.1:p.Leu19_Val20insLeu
ENST00000678025.1:c.54_56dup	ENSP00000503463.1:p.Leu19_Val20insLeu
ENST00000678078.1:c.108_110dup	ENSP00000502993.1:p.Leu37_Val38insLeu
ENST00000678217.1:c.54_56dup	ENSP00000504109.1:p.Leu19_Val20insLeu
ENST00000678331.1:c.54_56dup	ENSP00000504524.1:p.Leu19_Val20insLeu
ENST00000678443.1:c.54_56dup	ENSP00000504006.1:p.Leu19_Val20insLeu
ENST00000678512.1:n.91_93dup
ENST00000678622.1:n.99_101dup
ENST00000678939.1:c.54_56dup	ENSP00000503404.1:p.Leu19_Val20insLeu
ENST00000678988.1:n.1093_1095dup
ENST00000679053.1:n.99_101dup
ENST00000679343.1:n.92_94dup
ENST00000191018.9:c.54_56dup	ENSP00000191018.5:p.Leu19_Val20insLeu
ENST00000354880.9:c.108_110dup	ENSP00000346952.4:p.Leu37_Val38insLeu
ENST00000372459.6:c.54_56dup	ENSP00000361537.2:p.Leu19_Val20insLeu
ENST00000372484.7:c.108_110dup	ENSP00000361562.3:p.Leu37_Val38insLeu
ENST00000606066.1:n.99_101dup
ENST00000606394.5:c.108_110dup	ENSP00000475827.1:p.Leu37_Val38insLeu
ENST00000606788.5:c.108_110dup	ENSP00000476235.1:p.Leu37_Val38insLeu
ENST00000607212.1:n.77_79dup
ENST00000607482.5:c.54_56dup	ENSP00000475524.1:p.Leu19_Val20insLeu
ENST00000607814.5:n.79_81dup
ENST00000607841.5:n.99_101dup
NM_000308.2:c.108_110dup	NP_000299.2:p.Leu37_Val38insLeu
NM_000308.3:c.108_110dup	NP_000299.2:p.Leu37_Val38insLeu
NM_001127695.1:c.54_56dup	NP_001121167.1:p.Leu19_Val20insLeu
NM_001127695.2:c.54_56dup	NP_001121167.1:p.Leu19_Val20insLeu
NM_001167594.1:c.108_110dup	NP_001161066.1:p.Leu37_Val38insLeu
NM_001167594.2:c.108_110dup	NP_001161066.1:p.Leu37_Val38insLeu
NR_133656.1:n.1290_1292dup
NM_000308.4:c.54_56dup MANE Select	NP_000299.3:p.Leu19_Val20insLeu
NM_001127695.3:c.54_56dup	NP_001121167.1:p.Leu19_Val20insLeu
NM_001167594.3:c.54_56dup	NP_001161066.2:p.Leu19_Val20insLeu
NR_133656.2:n.99_101dup