Canonical Allele Identifier: CA3039041871
Gene: CTNS HGNC NCBI
CTNS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3656703_3656704del , CM000679.2:g.3656703_3656704del GRCh38
NC_000017.10:g.3559997_3559998del , CM000679.1:g.3559997_3559998del GRCh37
NC_000017.9:g.3506746_3506747del NCBI36
NG_012489.1:g.25236_25237del
NG_012489.2:g.25236_25237del

Transcript Alleles

HGVS Amino-acid Change
ENST00000046640.9:c.589_590del (CTNS) MANE Select ENSP00000046640.4:p.Gly197SerfsTer30
ENST00000381870.8:c.589_590del (CTNS) ENSP00000371294.3:p.Gly197SerfsTer30
ENST00000488623.6:c.-165_-164del (CTNS) ENSP00000501016.1:n.-165_-164del
ENST00000574776.6:c.148_149del (CTNS) ENSP00000461118.2:p.Gly50SerfsTer30
ENST00000673669.1:c.148_149del (CTNS) ENSP00000501123.1:p.Gly50SerfsTer30
ENST00000673965.1:c.589_590del (CTNS) ENSP00000500995.1:p.Gly197SerfsTer30
ENST00000046640.7:c.589_590del (CTNS) ENSP00000046640.3:p.Gly197SerfsTer30
ENST00000381870.7:c.589_590del (CTNS) ENSP00000371294.3:p.Gly197SerfsTer30
NM_001031681.2:c.589_590del (CTNS) NP_001026851.2:p.Gly197SerfsTer30
NM_004937.2:c.589_590del (CTNS) NP_004928.2:p.Gly197SerfsTer30
XM_005256485.1:c.589_590del (CTNS) XP_005256542.1:p.Gly197SerfsTer30
XM_006721463.1:c.589_590del (CTNS) XP_006721526.1:p.Gly197SerfsTer30
XM_006721464.1:c.148_149del (CTNS) XP_006721527.1:p.Gly50SerfsTer30
XM_011523691.1:c.589_590del (CTNS) XP_011521993.1:p.Gly197SerfsTer30
XM_011523692.1:c.148_149del (CTNS) XP_011521994.1:p.Gly50SerfsTer30
XR_934003.1:n.1182_1183del (CTNS)
XR_934158.1:n.1143+152_1143+153del (CTNS-AS1)
XR_934159.1:n.433+152_433+153del (CTNS-AS1)
XR_934160.1:n.438+152_438+153del (CTNS-AS1)
XR_934161.1:n.433+152_433+153del (CTNS-AS1)
XR_934162.1:n.438+152_438+153del (CTNS-AS1)
XR_934163.1:n.1034+152_1034+153del (CTNS-AS1)
XM_005256485.3:c.589_590del (CTNS) XP_005256542.1:p.Gly197SerfsTer30
XM_006721463.3:c.589_590del (CTNS) XP_006721526.1:p.Gly197SerfsTer30
XM_006721464.2:c.148_149del (CTNS) XP_006721527.1:p.Gly50SerfsTer30
XM_011523691.2:c.589_590del (CTNS) XP_011521993.1:p.Gly197SerfsTer30
XM_011523692.2:c.148_149del (CTNS) XP_011521994.1:p.Gly50SerfsTer30
XM_017024254.1:c.148_149del (CTNS) XP_016879743.1:p.Gly50SerfsTer30
XM_017024255.1:c.148_149del (CTNS) XP_016879744.1:p.Gly50SerfsTer30
XM_017024256.1:c.148_149del (CTNS) XP_016879745.1:p.Gly50SerfsTer30
XM_017024257.1:c.148_149del (CTNS) XP_016879746.1:p.Gly50SerfsTer30
XM_017024258.1:c.148_149del (CTNS) XP_016879747.1:p.Gly50SerfsTer30
XR_934158.2:n.1160+152_1160+153del (CTNS-AS1)
XR_934159.2:n.450+152_450+153del (CTNS-AS1)
XR_934160.2:n.455+152_455+153del (CTNS-AS1)
XR_934161.2:n.450+152_450+153del (CTNS-AS1)
XR_934162.3:n.455+152_455+153del (CTNS-AS1)
XR_934163.2:n.1051+152_1051+153del (CTNS-AS1)
NM_001374492.1:c.589_590del (CTNS) NP_001361421.1:p.Gly197SerfsTer30
NM_001374493.1:c.148_149del (CTNS) NP_001361422.1:p.Gly50SerfsTer30
NM_001374494.1:c.148_149del (CTNS) NP_001361423.1:p.Gly50SerfsTer30
NM_001374495.1:c.148_149del (CTNS) NP_001361424.1:p.Gly50SerfsTer30
NM_001374496.1:c.148_149del (CTNS) NP_001361425.1:p.Gly50SerfsTer30
NM_004937.3:c.589_590del (CTNS) MANE Select NP_004928.2:p.Gly197SerfsTer30
NM_001031681.3:c.589_590del (CTNS) NP_001026851.2:p.Gly197SerfsTer30