Canonical Allele Identifier: CA980870200

Gene: CTNS CTNS-AS1

Linked Data

• dbSNP Id: rs2076142686
• gnomAD v3: 17-3656338-ACCC-A
• gnomAD v4: 17-3656338-ACCC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656342_3656344del , CM000679.2:g.3656342_3656344del	GRCh38
NC_000017.10:g.3559636_3559638del , CM000679.1:g.3559636_3559638del	GRCh37
NC_000017.9:g.3506385_3506387del	NCBI36
NG_012489.1:g.24875_24877del
NG_012489.2:g.24875_24877del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.462-145_462-143del (CTNS) MANE Select	ENSP00000046640.4:n.462-145_462-143del
ENST00000381870.8:c.462-145_462-143del (CTNS)	ENSP00000371294.3:n.462-145_462-143del
ENST00000488623.6:c.-292-145_-292-143del (CTNS)	ENSP00000501016.1:n.-292-145_-292-143del
ENST00000574776.6:c.21-145_21-143del (CTNS)	ENSP00000461118.2:n.21-145_21-143del
ENST00000673669.1:c.21-145_21-143del (CTNS)	ENSP00000501123.1:n.21-145_21-143del
ENST00000673965.1:c.462-145_462-143del (CTNS)	ENSP00000500995.1:n.462-145_462-143del
ENST00000046640.7:c.462-145_462-143del (CTNS)	ENSP00000046640.3:n.462-145_462-143del
ENST00000381870.7:c.462-145_462-143del (CTNS)	ENSP00000371294.3:n.462-145_462-143del
ENST00000574218.1:c.21-145_21-143del (CTNS)	ENSP00000458912.1:n.21-145_21-143del
ENST00000574776.5:c.21-145_21-143del (CTNS)	ENSP00000461118.1:n.21-145_21-143del
ENST00000576979.1:c.462-145_462-143del (CTNS)	ENSP00000458457.1:n.462-145_462-143del
NM_001031681.2:c.462-145_462-143del (CTNS)	NP_001026851.2:n.462-145_462-143del
NM_004937.2:c.462-145_462-143del (CTNS)	NP_004928.2:n.462-145_462-143del
XM_005256485.1:c.462-145_462-143del (CTNS)	XP_005256542.1:n.462-145_462-143del
XM_006721463.1:c.462-145_462-143del (CTNS)	XP_006721526.1:n.462-145_462-143del
XM_006721464.1:c.21-145_21-143del (CTNS)	XP_006721527.1:n.21-145_21-143del
XM_011523691.1:c.462-145_462-143del (CTNS)	XP_011521993.1:n.462-145_462-143del
XM_011523692.1:c.21-145_21-143del (CTNS)	XP_011521994.1:n.21-145_21-143del
XR_934003.1:n.1055-145_1055-143del (CTNS)
XR_934158.1:n.1143+515_1143+517del (CTNS-AS1)
XR_934159.1:n.433+515_433+517del (CTNS-AS1)
XR_934160.1:n.438+515_438+517del (CTNS-AS1)
XR_934161.1:n.434-379_434-377del (CTNS-AS1)
XR_934162.1:n.439-379_439-377del (CTNS-AS1)
XR_934163.1:n.1034+515_1034+517del (CTNS-AS1)
XM_005256485.3:c.462-145_462-143del (CTNS)	XP_005256542.1:n.462-145_462-143del
XM_006721463.3:c.462-145_462-143del (CTNS)	XP_006721526.1:n.462-145_462-143del
XM_006721464.2:c.21-145_21-143del (CTNS)	XP_006721527.1:n.21-145_21-143del
XM_011523691.2:c.462-145_462-143del (CTNS)	XP_011521993.1:n.462-145_462-143del
XM_011523692.2:c.21-145_21-143del (CTNS)	XP_011521994.1:n.21-145_21-143del
XM_017024254.1:c.21-145_21-143del (CTNS)	XP_016879743.1:n.21-145_21-143del
XM_017024255.1:c.21-145_21-143del (CTNS)	XP_016879744.1:n.21-145_21-143del
XM_017024256.1:c.21-145_21-143del (CTNS)	XP_016879745.1:n.21-145_21-143del
XM_017024257.1:c.21-145_21-143del (CTNS)	XP_016879746.1:n.21-145_21-143del
XM_017024258.1:c.21-145_21-143del (CTNS)	XP_016879747.1:n.21-145_21-143del
XR_934158.2:n.1160+515_1160+517del (CTNS-AS1)
XR_934159.2:n.450+515_450+517del (CTNS-AS1)
XR_934160.2:n.455+515_455+517del (CTNS-AS1)
XR_934161.2:n.451-379_451-377del (CTNS-AS1)
XR_934162.3:n.456-379_456-377del (CTNS-AS1)
XR_934163.2:n.1051+515_1051+517del (CTNS-AS1)
NM_001374492.1:c.462-145_462-143del (CTNS)	NP_001361421.1:n.462-145_462-143del
NM_001374493.1:c.21-145_21-143del (CTNS)	NP_001361422.1:n.21-145_21-143del
NM_001374494.1:c.21-145_21-143del (CTNS)	NP_001361423.1:n.21-145_21-143del
NM_001374495.1:c.21-145_21-143del (CTNS)	NP_001361424.1:n.21-145_21-143del
NM_001374496.1:c.21-145_21-143del (CTNS)	NP_001361425.1:n.21-145_21-143del
NM_004937.3:c.462-145_462-143del (CTNS) MANE Select	NP_004928.2:n.462-145_462-143del
NM_001031681.3:c.462-145_462-143del (CTNS)	NP_001026851.2:n.462-145_462-143del