Canonical Allele Identifier: CA8291763
Gene: CTNS HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371212
ClinVar RCV Id: RCV000409104

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3656544_3656545del , CM000679.2:g.3656544_3656545del GRCh38
NC_000017.10:g.3559838_3559839del , CM000679.1:g.3559838_3559839del GRCh37
NC_000017.9:g.3506587_3506588del NCBI36
NG_012489.1:g.25077_25078del
NG_012489.2:g.25077_25078del

Transcript Alleles

HGVS Amino-acid change
NM_001031681.2:c.519_520del VV NP_001026851.2:p.Tyr173Ter
NM_004937.2:c.519_520del VV NP_004928.2:p.Tyr173Ter
XM_005256485.1:c.519_520del XP_005256542.1:p.Tyr173Ter
XM_006721463.1:c.519_520del XP_006721526.1:p.Tyr173Ter
XM_006721464.1:c.78_79del XP_006721527.1:p.Tyr26Ter
XM_011523691.1:c.519_520del XP_011521993.1:p.Tyr173Ter
XM_011523692.1:c.78_79del XP_011521994.1:p.Tyr26Ter
XR_934003.1:n.1112_1113del
XR_934158.1:n.1143+312_1143+313del
XR_934159.1:n.433+312_433+313del
XR_934160.1:n.438+312_438+313del
XR_934161.1:n.433+312_433+313del
XR_934162.1:n.438+312_438+313del
XR_934163.1:n.1034+312_1034+313del
XM_005256485.3:c.519_520del XP_005256542.1:p.Tyr173Ter
XM_006721463.3:c.519_520del XP_006721526.1:p.Tyr173Ter
XM_006721464.2:c.78_79del XP_006721527.1:p.Tyr26Ter
XM_011523691.2:c.519_520del XP_011521993.1:p.Tyr173Ter
XM_011523692.2:c.78_79del XP_011521994.1:p.Tyr26Ter
XM_017024254.1:c.78_79del XP_016879743.1:p.Tyr26Ter
XM_017024255.1:c.78_79del XP_016879744.1:p.Tyr26Ter
XM_017024256.1:c.78_79del XP_016879745.1:p.Tyr26Ter
XM_017024257.1:c.78_79del XP_016879746.1:p.Tyr26Ter
XM_017024258.1:c.78_79del XP_016879747.1:p.Tyr26Ter
XR_934158.2:n.1160+312_1160+313del
XR_934159.2:n.450+312_450+313del
XR_934160.2:n.455+312_455+313del
XR_934161.2:n.450+312_450+313del
XR_934162.3:n.455+312_455+313del
XR_934163.2:n.1051+312_1051+313del
ENST00000046640.7:c.519_520del ENSP00000046640.3:p.Tyr173Ter
ENST00000381870.7:c.519_520del ENSP00000371294.3:p.Tyr173Ter
ENST00000574218.1:c.78_79del ENSP00000458912.1:p.Tyr26Ter