Canonical Allele Identifier: CA342080
Gene: CTNS HGNC NCBI
CTNS-AS1 HGNC NCBI

Linked Data

ClinVar Variation Id: 21442
dbSNP Id: rs113994211

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3656584_3656610del , CM000679.2:g.3656584_3656610del GRCh38
NC_000017.10:g.3559878_3559904del , CM000679.1:g.3559878_3559904del GRCh37
NC_000017.9:g.3506627_3506653del NCBI36
NG_012489.1:g.25117_25143del
NG_012489.2:g.25117_25143del

Transcript Alleles

HGVS Amino-acid change
ENST00000046640.9:c.559_561+24del (CTNS)
ENST00000381870.8:c.559_561+24del (CTNS)
ENST00000488623.6:c.-195_-193+24del (CTNS)
ENST00000574776.6:c.118_120+24del (CTNS)
ENST00000673669.1:c.118_120+24del (CTNS)
ENST00000673965.1:c.559_561+24del (CTNS)
ENST00000046640.7:c.559_561+24del (CTNS)
ENST00000381870.7:c.559_561+24del (CTNS)
NM_001031681.2:c.559_561+24del (CTNS)
NM_004937.2:c.559_561+24del (CTNS)
XM_005256485.1:c.559_561+24del (CTNS)
XM_006721463.1:c.559_561+24del (CTNS)
XM_006721464.1:c.118_120+24del (CTNS)
XM_011523691.1:c.559_561+24del (CTNS)
XM_011523692.1:c.118_120+24del (CTNS)
XR_934003.1:n.1152_1154+24del (CTNS)
XR_934158.1:n.1143+257_1143+283del (CTNS-AS1)
XR_934159.1:n.433+257_433+283del (CTNS-AS1)
XR_934160.1:n.438+257_438+283del (CTNS-AS1)
XR_934161.1:n.433+257_433+283del (CTNS-AS1)
XR_934162.1:n.438+257_438+283del (CTNS-AS1)
XR_934163.1:n.1034+257_1034+283del (CTNS-AS1)
XM_005256485.3:c.559_561+24del (CTNS)
XM_006721463.3:c.559_561+24del (CTNS)
XM_006721464.2:c.118_120+24del (CTNS)
XM_011523691.2:c.559_561+24del (CTNS)
XM_011523692.2:c.118_120+24del (CTNS)
XM_017024254.1:c.118_120+24del (CTNS)
XM_017024255.1:c.118_120+24del (CTNS)
XM_017024256.1:c.118_120+24del (CTNS)
XM_017024257.1:c.118_120+24del (CTNS)
XM_017024258.1:c.118_120+24del (CTNS)
XR_934158.2:n.1160+257_1160+283del (CTNS-AS1)
XR_934159.2:n.450+257_450+283del (CTNS-AS1)
XR_934160.2:n.455+257_455+283del (CTNS-AS1)
XR_934161.2:n.450+257_450+283del (CTNS-AS1)
XR_934162.3:n.455+257_455+283del (CTNS-AS1)
XR_934163.2:n.1051+257_1051+283del (CTNS-AS1)
NM_001374492.1:c.559_561+24del (CTNS)
NM_001374493.1:c.118_120+24del (CTNS)
NM_001374494.1:c.118_120+24del (CTNS)
NM_001374495.1:c.118_120+24del (CTNS)
NM_001374496.1:c.118_120+24del (CTNS)
NM_004937.3:c.559_561+24del (CTNS)
NM_001031681.3:c.559_561+24del (CTNS)