Canonical Allele Identifier: CA980870303

Gene: CTNS CTNS-AS1

Linked Data

• gnomAD v3: 17-3656376-CTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCT-C
• gnomAD v4: 17-3656376-CTCACCCTCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGCCCTGTCCCTCCACCCCTGCCAGTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656383_3656454del , CM000679.2:g.3656383_3656454del	GRCh38
NC_000017.10:g.3559677_3559748del , CM000679.1:g.3559677_3559748del	GRCh37
NC_000017.9:g.3506426_3506497del	NCBI36
NG_012489.1:g.24916_24987del
NG_012489.2:g.24916_24987del

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.462-104_462-33del (CTNS) MANE Select	ENSP00000046640.4:n.462-104_462-33del
ENST00000381870.8:c.462-104_462-33del (CTNS)	ENSP00000371294.3:n.462-104_462-33del
ENST00000488623.6:c.-292-104_-292-33del (CTNS)	ENSP00000501016.1:n.-292-104_-292-33del
ENST00000574776.6:c.21-104_21-33del (CTNS)	ENSP00000461118.2:n.21-104_21-33del
ENST00000673669.1:c.21-104_21-33del (CTNS)	ENSP00000501123.1:n.21-104_21-33del
ENST00000673965.1:c.462-104_462-33del (CTNS)	ENSP00000500995.1:n.462-104_462-33del
ENST00000046640.7:c.462-104_462-33del (CTNS)	ENSP00000046640.3:n.462-104_462-33del
ENST00000381870.7:c.462-104_462-33del (CTNS)	ENSP00000371294.3:n.462-104_462-33del
ENST00000574218.1:c.21-104_21-33del (CTNS)	ENSP00000458912.1:n.21-104_21-33del
ENST00000574776.5:c.21-104_21-33del (CTNS)	ENSP00000461118.1:n.21-104_21-33del
ENST00000576979.1:c.462-104_462-33del (CTNS)	ENSP00000458457.1:n.462-104_462-33del
NM_001031681.2:c.462-104_462-33del (CTNS)	NP_001026851.2:n.462-104_462-33del
NM_004937.2:c.462-104_462-33del (CTNS)	NP_004928.2:n.462-104_462-33del
XM_005256485.1:c.462-104_462-33del (CTNS)	XP_005256542.1:n.462-104_462-33del
XM_006721463.1:c.462-104_462-33del (CTNS)	XP_006721526.1:n.462-104_462-33del
XM_006721464.1:c.21-104_21-33del (CTNS)	XP_006721527.1:n.21-104_21-33del
XM_011523691.1:c.462-104_462-33del (CTNS)	XP_011521993.1:n.462-104_462-33del
XM_011523692.1:c.21-104_21-33del (CTNS)	XP_011521994.1:n.21-104_21-33del
XR_934003.1:n.1055-104_1055-33del (CTNS)
XR_934158.1:n.1143+408_1143+479del (CTNS-AS1)
XR_934159.1:n.433+408_433+479del (CTNS-AS1)
XR_934160.1:n.438+408_438+479del (CTNS-AS1)
XR_934161.1:n.433+408_434-415del (CTNS-AS1)
XR_934162.1:n.438+408_439-415del (CTNS-AS1)
XR_934163.1:n.1034+408_1034+479del (CTNS-AS1)
XM_005256485.3:c.462-104_462-33del (CTNS)	XP_005256542.1:n.462-104_462-33del
XM_006721463.3:c.462-104_462-33del (CTNS)	XP_006721526.1:n.462-104_462-33del
XM_006721464.2:c.21-104_21-33del (CTNS)	XP_006721527.1:n.21-104_21-33del
XM_011523691.2:c.462-104_462-33del (CTNS)	XP_011521993.1:n.462-104_462-33del
XM_011523692.2:c.21-104_21-33del (CTNS)	XP_011521994.1:n.21-104_21-33del
XM_017024254.1:c.21-104_21-33del (CTNS)	XP_016879743.1:n.21-104_21-33del
XM_017024255.1:c.21-104_21-33del (CTNS)	XP_016879744.1:n.21-104_21-33del
XM_017024256.1:c.21-104_21-33del (CTNS)	XP_016879745.1:n.21-104_21-33del
XM_017024257.1:c.21-104_21-33del (CTNS)	XP_016879746.1:n.21-104_21-33del
XM_017024258.1:c.21-104_21-33del (CTNS)	XP_016879747.1:n.21-104_21-33del
XR_934158.2:n.1160+408_1160+479del (CTNS-AS1)
XR_934159.2:n.450+408_450+479del (CTNS-AS1)
XR_934160.2:n.455+408_455+479del (CTNS-AS1)
XR_934161.2:n.450+408_451-415del (CTNS-AS1)
XR_934162.3:n.455+408_456-415del (CTNS-AS1)
XR_934163.2:n.1051+408_1051+479del (CTNS-AS1)
NM_001374492.1:c.462-104_462-33del (CTNS)	NP_001361421.1:n.462-104_462-33del
NM_001374493.1:c.21-104_21-33del (CTNS)	NP_001361422.1:n.21-104_21-33del
NM_001374494.1:c.21-104_21-33del (CTNS)	NP_001361423.1:n.21-104_21-33del
NM_001374495.1:c.21-104_21-33del (CTNS)	NP_001361424.1:n.21-104_21-33del
NM_001374496.1:c.21-104_21-33del (CTNS)	NP_001361425.1:n.21-104_21-33del
NM_004937.3:c.462-104_462-33del (CTNS) MANE Select	NP_004928.2:n.462-104_462-33del
NM_001031681.3:c.462-104_462-33del (CTNS)	NP_001026851.2:n.462-104_462-33del