Canonical Allele Identifier: CA980870317

Gene: CTNS CTNS-AS1

Linked Data

• gnomAD v3: 17-3656383-TCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCC-T
• gnomAD v4: 17-3656383-TCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCTTCACCCC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656392_3656463del , CM000679.2:g.3656392_3656463del	GRCh38
NC_000017.10:g.3559686_3559757del , CM000679.1:g.3559686_3559757del	GRCh37
NC_000017.9:g.3506435_3506506del	NCBI36
NG_012489.1:g.24925_24996del
NG_012489.2:g.24925_24996del

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.462-95_462-24del (CTNS) MANE Select	ENSP00000046640.4:n.462-95_462-24del
ENST00000381870.8:c.462-95_462-24del (CTNS)	ENSP00000371294.3:n.462-95_462-24del
ENST00000488623.6:c.-292-95_-292-24del (CTNS)	ENSP00000501016.1:n.-292-95_-292-24del
ENST00000574776.6:c.21-95_21-24del (CTNS)	ENSP00000461118.2:n.21-95_21-24del
ENST00000673669.1:c.21-95_21-24del (CTNS)	ENSP00000501123.1:n.21-95_21-24del
ENST00000673965.1:c.462-95_462-24del (CTNS)	ENSP00000500995.1:n.462-95_462-24del
ENST00000046640.7:c.462-95_462-24del (CTNS)	ENSP00000046640.3:n.462-95_462-24del
ENST00000381870.7:c.462-95_462-24del (CTNS)	ENSP00000371294.3:n.462-95_462-24del
ENST00000574218.1:c.21-95_21-24del (CTNS)	ENSP00000458912.1:n.21-95_21-24del
ENST00000574776.5:c.21-95_21-24del (CTNS)	ENSP00000461118.1:n.21-95_21-24del
ENST00000576979.1:c.462-95_462-24del (CTNS)	ENSP00000458457.1:n.462-95_462-24del
NM_001031681.2:c.462-95_462-24del (CTNS)	NP_001026851.2:n.462-95_462-24del
NM_004937.2:c.462-95_462-24del (CTNS)	NP_004928.2:n.462-95_462-24del
XM_005256485.1:c.462-95_462-24del (CTNS)	XP_005256542.1:n.462-95_462-24del
XM_006721463.1:c.462-95_462-24del (CTNS)	XP_006721526.1:n.462-95_462-24del
XM_006721464.1:c.21-95_21-24del (CTNS)	XP_006721527.1:n.21-95_21-24del
XM_011523691.1:c.462-95_462-24del (CTNS)	XP_011521993.1:n.462-95_462-24del
XM_011523692.1:c.21-95_21-24del (CTNS)	XP_011521994.1:n.21-95_21-24del
XR_934003.1:n.1055-95_1055-24del (CTNS)
XR_934158.1:n.1143+401_1143+472del (CTNS-AS1)
XR_934159.1:n.433+401_433+472del (CTNS-AS1)
XR_934160.1:n.438+401_438+472del (CTNS-AS1)
XR_934161.1:n.433+401_434-422del (CTNS-AS1)
XR_934162.1:n.438+401_439-422del (CTNS-AS1)
XR_934163.1:n.1034+401_1034+472del (CTNS-AS1)
XM_005256485.3:c.462-95_462-24del (CTNS)	XP_005256542.1:n.462-95_462-24del
XM_006721463.3:c.462-95_462-24del (CTNS)	XP_006721526.1:n.462-95_462-24del
XM_006721464.2:c.21-95_21-24del (CTNS)	XP_006721527.1:n.21-95_21-24del
XM_011523691.2:c.462-95_462-24del (CTNS)	XP_011521993.1:n.462-95_462-24del
XM_011523692.2:c.21-95_21-24del (CTNS)	XP_011521994.1:n.21-95_21-24del
XM_017024254.1:c.21-95_21-24del (CTNS)	XP_016879743.1:n.21-95_21-24del
XM_017024255.1:c.21-95_21-24del (CTNS)	XP_016879744.1:n.21-95_21-24del
XM_017024256.1:c.21-95_21-24del (CTNS)	XP_016879745.1:n.21-95_21-24del
XM_017024257.1:c.21-95_21-24del (CTNS)	XP_016879746.1:n.21-95_21-24del
XM_017024258.1:c.21-95_21-24del (CTNS)	XP_016879747.1:n.21-95_21-24del
XR_934158.2:n.1160+401_1160+472del (CTNS-AS1)
XR_934159.2:n.450+401_450+472del (CTNS-AS1)
XR_934160.2:n.455+401_455+472del (CTNS-AS1)
XR_934161.2:n.450+401_451-422del (CTNS-AS1)
XR_934162.3:n.455+401_456-422del (CTNS-AS1)
XR_934163.2:n.1051+401_1051+472del (CTNS-AS1)
NM_001374492.1:c.462-95_462-24del (CTNS)	NP_001361421.1:n.462-95_462-24del
NM_001374493.1:c.21-95_21-24del (CTNS)	NP_001361422.1:n.21-95_21-24del
NM_001374494.1:c.21-95_21-24del (CTNS)	NP_001361423.1:n.21-95_21-24del
NM_001374495.1:c.21-95_21-24del (CTNS)	NP_001361424.1:n.21-95_21-24del
NM_001374496.1:c.21-95_21-24del (CTNS)	NP_001361425.1:n.21-95_21-24del
NM_004937.3:c.462-95_462-24del (CTNS) MANE Select	NP_004928.2:n.462-95_462-24del
NM_001031681.3:c.462-95_462-24del (CTNS)	NP_001026851.2:n.462-95_462-24del