Canonical Allele Identifier: CA2506168988
Gene: CTNS HGNC NCBI
CTNS-AS1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3656345_3656367del , CM000679.2:g.3656345_3656367del GRCh38
NC_000017.10:g.3559639_3559661del , CM000679.1:g.3559639_3559661del GRCh37
NC_000017.9:g.3506388_3506410del NCBI36
NG_012489.1:g.24878_24900del
NG_012489.2:g.24878_24900del

Transcript Alleles

HGVS Amino-acid change
ENST00000046640.9:c.462-142_462-120del (CTNS) MANE Select ENSP00000046640.4:n.462-142_462-120del
ENST00000381870.8:c.462-142_462-120del (CTNS) ENSP00000371294.3:n.462-142_462-120del
ENST00000488623.6:c.-292-142_-292-120del (CTNS) ENSP00000501016.1:n.-292-142_-292-120del
ENST00000574776.6:c.21-142_21-120del (CTNS) ENSP00000461118.2:n.21-142_21-120del
ENST00000673669.1:c.21-142_21-120del (CTNS) ENSP00000501123.1:n.21-142_21-120del
ENST00000673965.1:c.462-142_462-120del (CTNS) ENSP00000500995.1:n.462-142_462-120del
ENST00000046640.7:c.462-142_462-120del (CTNS) ENSP00000046640.3:n.462-142_462-120del
ENST00000381870.7:c.462-142_462-120del (CTNS) ENSP00000371294.3:n.462-142_462-120del
ENST00000574218.1:c.21-142_21-120del (CTNS) ENSP00000458912.1:n.21-142_21-120del
ENST00000574776.5:c.21-142_21-120del (CTNS) ENSP00000461118.1:n.21-142_21-120del
ENST00000576979.1:c.462-142_462-120del (CTNS) ENSP00000458457.1:n.462-142_462-120del
NM_001031681.2:c.462-142_462-120del (CTNS) NP_001026851.2:n.462-142_462-120del
NM_004937.2:c.462-142_462-120del (CTNS) NP_004928.2:n.462-142_462-120del
XM_005256485.1:c.462-142_462-120del (CTNS) XP_005256542.1:n.462-142_462-120del
XM_006721463.1:c.462-142_462-120del (CTNS) XP_006721526.1:n.462-142_462-120del
XM_006721464.1:c.21-142_21-120del (CTNS) XP_006721527.1:n.21-142_21-120del
XM_011523691.1:c.462-142_462-120del (CTNS) XP_011521993.1:n.462-142_462-120del
XM_011523692.1:c.21-142_21-120del (CTNS) XP_011521994.1:n.21-142_21-120del
XR_934003.1:n.1055-142_1055-120del (CTNS)
XR_934158.1:n.1143+493_1143+515del (CTNS-AS1)
XR_934159.1:n.433+493_433+515del (CTNS-AS1)
XR_934160.1:n.438+493_438+515del (CTNS-AS1)
XR_934161.1:n.434-401_434-379del (CTNS-AS1)
XR_934162.1:n.439-401_439-379del (CTNS-AS1)
XR_934163.1:n.1034+493_1034+515del (CTNS-AS1)
XM_005256485.3:c.462-142_462-120del (CTNS) XP_005256542.1:n.462-142_462-120del
XM_006721463.3:c.462-142_462-120del (CTNS) XP_006721526.1:n.462-142_462-120del
XM_006721464.2:c.21-142_21-120del (CTNS) XP_006721527.1:n.21-142_21-120del
XM_011523691.2:c.462-142_462-120del (CTNS) XP_011521993.1:n.462-142_462-120del
XM_011523692.2:c.21-142_21-120del (CTNS) XP_011521994.1:n.21-142_21-120del
XM_017024254.1:c.21-142_21-120del (CTNS) XP_016879743.1:n.21-142_21-120del
XM_017024255.1:c.21-142_21-120del (CTNS) XP_016879744.1:n.21-142_21-120del
XM_017024256.1:c.21-142_21-120del (CTNS) XP_016879745.1:n.21-142_21-120del
XM_017024257.1:c.21-142_21-120del (CTNS) XP_016879746.1:n.21-142_21-120del
XM_017024258.1:c.21-142_21-120del (CTNS) XP_016879747.1:n.21-142_21-120del
XR_934158.2:n.1160+493_1160+515del (CTNS-AS1)
XR_934159.2:n.450+493_450+515del (CTNS-AS1)
XR_934160.2:n.455+493_455+515del (CTNS-AS1)
XR_934161.2:n.451-401_451-379del (CTNS-AS1)
XR_934162.3:n.456-401_456-379del (CTNS-AS1)
XR_934163.2:n.1051+493_1051+515del (CTNS-AS1)
NM_001374492.1:c.462-142_462-120del (CTNS) NP_001361421.1:n.462-142_462-120del
NM_001374493.1:c.21-142_21-120del (CTNS) NP_001361422.1:n.21-142_21-120del
NM_001374494.1:c.21-142_21-120del (CTNS) NP_001361423.1:n.21-142_21-120del
NM_001374495.1:c.21-142_21-120del (CTNS) NP_001361424.1:n.21-142_21-120del
NM_001374496.1:c.21-142_21-120del (CTNS) NP_001361425.1:n.21-142_21-120del
NM_004937.3:c.462-142_462-120del (CTNS) MANE Select NP_004928.2:n.462-142_462-120del
NM_001031681.3:c.462-142_462-120del (CTNS) NP_001026851.2:n.462-142_462-120del