Canonical Allele Identifier: CA9882898

Gene: CTSA

Linked Data

• ClinVar Variation Id: 1379276
• ClinVar RCV Id: RCV001891952
• dbSNP Id: rs72555383
• ExAC: 20:44520237 CCTGCTGCTG / C
• gnomAD v2: 20-44520237-CCTGCTGCTG-C
• gnomAD v3: 20-45891598-CCTGCTGCTG-C
• gnomAD v4: 20-45891598-CCTGCTGCTG-C
• MyVariant Identifiers: chr20:g.44520241_44520249del (hg19) ; chr20:g.44520238_44520246del (hg19) ; chr20:g.45891599_45891607del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.45891616_45891624del , CM000682.2:g.45891616_45891624del	GRCh38
NC_000020.10:g.44520255_44520263del , CM000682.1:g.44520255_44520263del	GRCh37
NC_000020.9:g.43953662_43953670del	NCBI36
NG_008291.1:g.5665_5673del
NG_033108.1:g.4681_4689del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000480961.3:n.465_473del
ENST00000484855.4:n.98_106del
ENST00000493522.8:n.76_84del
ENST00000606066.3:n.465_473del
ENST00000607187.3:n.465_473del
ENST00000607212.3:n.106_114del
ENST00000607814.7:n.72_80del
ENST00000678622.2:n.465_473del
ENST00000678691.2:n.465_473del
ENST00000678988.2:n.1087_1095del
ENST00000679053.2:n.465_473del
ENST00000679343.2:n.465_473del
ENST00000684198.1:n.465_473del
ENST00000372459.7:c.48_56del	ENSP00000361537.2:p.Leu17_Leu19del
ENST00000372484.8:c.102_110del	ENSP00000361562.3:p.Leu35_Leu37del
ENST00000419493.3:c.48_56del	ENSP00000408533.3:p.Leu17_Leu19del
ENST00000480961.2:n.75_83del
ENST00000484855.3:n.98_106del
ENST00000493522.7:n.76_84del
ENST00000606066.2:n.113_121del
ENST00000606394.6:c.102_110del	ENSP00000475827.1:p.Leu35_Leu37del
ENST00000607212.2:n.106_114del
ENST00000607482.6:c.48_56del	ENSP00000475524.2:p.Leu17_Leu19del
ENST00000607814.6:n.72_80del
ENST00000646241.3:c.48_56del MANE Select	ENSP00000493613.2:p.Leu17_Leu19del
ENST00000676526.1:c.102_110del	ENSP00000504209.1:p.Leu35_Leu37del
ENST00000676597.1:c.48_56del	ENSP00000503904.1:p.Leu17_Leu19del
ENST00000676657.1:c.48_56del	ENSP00000504158.1:p.Leu17_Leu19del
ENST00000676967.1:c.48_56del	ENSP00000502866.1:p.Leu17_Leu19del
ENST00000677394.1:c.102_110del	ENSP00000504790.1:p.Leu35_Leu37del
ENST00000677525.1:c.48_56del	ENSP00000504197.1:p.Leu17_Leu19del
ENST00000678025.1:c.48_56del	ENSP00000503463.1:p.Leu17_Leu19del
ENST00000678078.1:c.102_110del	ENSP00000502993.1:p.Leu35_Leu37del
ENST00000678217.1:c.48_56del	ENSP00000504109.1:p.Leu17_Leu19del
ENST00000678331.1:c.48_56del	ENSP00000504524.1:p.Leu17_Leu19del
ENST00000678443.1:c.48_56del	ENSP00000504006.1:p.Leu17_Leu19del
ENST00000678512.1:n.85_93del
ENST00000678622.1:n.93_101del
ENST00000678939.1:c.48_56del	ENSP00000503404.1:p.Leu17_Leu19del
ENST00000678988.1:n.1087_1095del
ENST00000679053.1:n.93_101del
ENST00000679343.1:n.86_94del
ENST00000191018.9:c.48_56del	ENSP00000191018.5:p.Leu17_Leu19del
ENST00000354880.9:c.102_110del	ENSP00000346952.4:p.Leu35_Leu37del
ENST00000372459.6:c.48_56del	ENSP00000361537.2:p.Leu17_Leu19del
ENST00000372484.7:c.102_110del	ENSP00000361562.3:p.Leu35_Leu37del
ENST00000606066.1:n.93_101del
ENST00000606394.5:c.102_110del	ENSP00000475827.1:p.Leu35_Leu37del
ENST00000606788.5:c.102_110del	ENSP00000476235.1:p.Leu35_Leu37del
ENST00000607212.1:n.71_79del
ENST00000607482.5:c.48_56del	ENSP00000475524.1:p.Leu17_Leu19del
ENST00000607814.5:n.73_81del
ENST00000607841.5:n.93_101del
NM_000308.2:c.102_110del	NP_000299.2:p.Leu35_Leu37del
NM_000308.3:c.102_110del	NP_000299.2:p.Leu35_Leu37del
NM_001127695.1:c.48_56del	NP_001121167.1:p.Leu17_Leu19del
NM_001127695.2:c.48_56del	NP_001121167.1:p.Leu17_Leu19del
NM_001167594.1:c.102_110del	NP_001161066.1:p.Leu35_Leu37del
NM_001167594.2:c.102_110del	NP_001161066.1:p.Leu35_Leu37del
NR_133656.1:n.1284_1292del
NM_000308.4:c.48_56del MANE Select	NP_000299.3:p.Leu17_Leu19del
NM_001127695.3:c.48_56del	NP_001121167.1:p.Leu17_Leu19del
NM_001167594.3:c.48_56del	NP_001161066.2:p.Leu17_Leu19del
NR_133656.2:n.93_101del