Canonical Allele Identifier: CA980870424

Gene: CTNS CTNS-AS1

Linked Data

• ClinVar Variation Id: 2925136
• ClinVar RCV Id: RCV003780790
• dbSNP Id: rs2076147522
• gnomAD v3: 17-3656425-CTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCT-C
• gnomAD v4: 17-3656425-CTGTCCCTCCACCCCTGCCAGTCTTCACCCCCTGCCCTGTCT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656440_3656480del , CM000679.2:g.3656440_3656480del	GRCh38
NC_000017.10:g.3559734_3559774del , CM000679.1:g.3559734_3559774del	GRCh37
NC_000017.9:g.3506483_3506523del	NCBI36
NG_012489.1:g.24973_25013del
NG_012489.2:g.24973_25013del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.462-47_462-7del (CTNS) MANE Select	ENSP00000046640.4:n.462-47_462-7del
ENST00000381870.8:c.462-47_462-7del (CTNS)	ENSP00000371294.3:n.462-47_462-7del
ENST00000488623.6:c.-292-47_-292-7del (CTNS)	ENSP00000501016.1:n.-292-47_-292-7del
ENST00000574776.6:c.21-47_21-7del (CTNS)	ENSP00000461118.2:n.21-47_21-7del
ENST00000673669.1:c.21-47_21-7del (CTNS)	ENSP00000501123.1:n.21-47_21-7del
ENST00000673965.1:c.462-47_462-7del (CTNS)	ENSP00000500995.1:n.462-47_462-7del
ENST00000046640.7:c.462-47_462-7del (CTNS)	ENSP00000046640.3:n.462-47_462-7del
ENST00000381870.7:c.462-47_462-7del (CTNS)	ENSP00000371294.3:n.462-47_462-7del
ENST00000574218.1:c.21-47_21-7del (CTNS)	ENSP00000458912.1:n.21-47_21-7del
ENST00000574776.5:c.21-47_21-7del (CTNS)	ENSP00000461118.1:n.21-47_21-7del
ENST00000576979.1:c.462-47_462-7del (CTNS)	ENSP00000458457.1:n.462-47_462-7del
NM_001031681.2:c.462-47_462-7del (CTNS)	NP_001026851.2:n.462-47_462-7del
NM_004937.2:c.462-47_462-7del (CTNS)	NP_004928.2:n.462-47_462-7del
XM_005256485.1:c.462-47_462-7del (CTNS)	XP_005256542.1:n.462-47_462-7del
XM_006721463.1:c.462-47_462-7del (CTNS)	XP_006721526.1:n.462-47_462-7del
XM_006721464.1:c.21-47_21-7del (CTNS)	XP_006721527.1:n.21-47_21-7del
XM_011523691.1:c.462-47_462-7del (CTNS)	XP_011521993.1:n.462-47_462-7del
XM_011523692.1:c.21-47_21-7del (CTNS)	XP_011521994.1:n.21-47_21-7del
XR_934003.1:n.1055-47_1055-7del (CTNS)
XR_934158.1:n.1143+390_1143+430del (CTNS-AS1)
XR_934159.1:n.433+390_433+430del (CTNS-AS1)
XR_934160.1:n.438+390_438+430del (CTNS-AS1)
XR_934161.1:n.433+390_433+430del (CTNS-AS1)
XR_934162.1:n.438+390_438+430del (CTNS-AS1)
XR_934163.1:n.1034+390_1034+430del (CTNS-AS1)
XM_005256485.3:c.462-47_462-7del (CTNS)	XP_005256542.1:n.462-47_462-7del
XM_006721463.3:c.462-47_462-7del (CTNS)	XP_006721526.1:n.462-47_462-7del
XM_006721464.2:c.21-47_21-7del (CTNS)	XP_006721527.1:n.21-47_21-7del
XM_011523691.2:c.462-47_462-7del (CTNS)	XP_011521993.1:n.462-47_462-7del
XM_011523692.2:c.21-47_21-7del (CTNS)	XP_011521994.1:n.21-47_21-7del
XM_017024254.1:c.21-47_21-7del (CTNS)	XP_016879743.1:n.21-47_21-7del
XM_017024255.1:c.21-47_21-7del (CTNS)	XP_016879744.1:n.21-47_21-7del
XM_017024256.1:c.21-47_21-7del (CTNS)	XP_016879745.1:n.21-47_21-7del
XM_017024257.1:c.21-47_21-7del (CTNS)	XP_016879746.1:n.21-47_21-7del
XM_017024258.1:c.21-47_21-7del (CTNS)	XP_016879747.1:n.21-47_21-7del
XR_934158.2:n.1160+390_1160+430del (CTNS-AS1)
XR_934159.2:n.450+390_450+430del (CTNS-AS1)
XR_934160.2:n.455+390_455+430del (CTNS-AS1)
XR_934161.2:n.450+390_450+430del (CTNS-AS1)
XR_934162.3:n.455+390_455+430del (CTNS-AS1)
XR_934163.2:n.1051+390_1051+430del (CTNS-AS1)
NM_001374492.1:c.462-47_462-7del (CTNS)	NP_001361421.1:n.462-47_462-7del
NM_001374493.1:c.21-47_21-7del (CTNS)	NP_001361422.1:n.21-47_21-7del
NM_001374494.1:c.21-47_21-7del (CTNS)	NP_001361423.1:n.21-47_21-7del
NM_001374495.1:c.21-47_21-7del (CTNS)	NP_001361424.1:n.21-47_21-7del
NM_001374496.1:c.21-47_21-7del (CTNS)	NP_001361425.1:n.21-47_21-7del
NM_004937.3:c.462-47_462-7del (CTNS) MANE Select	NP_004928.2:n.462-47_462-7del
NM_001031681.3:c.462-47_462-7del (CTNS)	NP_001026851.2:n.462-47_462-7del