Canonical Allele Identifier: CA980870258

Gene: CTNS CTNS-AS1

Linked Data

• gnomAD v3: 17-3656354-TGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGC-T
• gnomAD v4: 17-3656354-TGCCCCTCCACCCCCGCCAGTCCTCACCCTCTGC-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656355_3656387del , CM000679.2:g.3656355_3656387del	GRCh38
NC_000017.10:g.3559649_3559681del , CM000679.1:g.3559649_3559681del	GRCh37
NC_000017.9:g.3506398_3506430del	NCBI36
NG_012489.1:g.24888_24920del
NG_012489.2:g.24888_24920del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.462-132_462-100del (CTNS) MANE Select	ENSP00000046640.4:n.462-132_462-100del
ENST00000381870.8:c.462-132_462-100del (CTNS)	ENSP00000371294.3:n.462-132_462-100del
ENST00000488623.6:c.-292-132_-292-100del (CTNS)	ENSP00000501016.1:n.-292-132_-292-100del
ENST00000574776.6:c.21-132_21-100del (CTNS)	ENSP00000461118.2:n.21-132_21-100del
ENST00000673669.1:c.21-132_21-100del (CTNS)	ENSP00000501123.1:n.21-132_21-100del
ENST00000673965.1:c.462-132_462-100del (CTNS)	ENSP00000500995.1:n.462-132_462-100del
ENST00000046640.7:c.462-132_462-100del (CTNS)	ENSP00000046640.3:n.462-132_462-100del
ENST00000381870.7:c.462-132_462-100del (CTNS)	ENSP00000371294.3:n.462-132_462-100del
ENST00000574218.1:c.21-132_21-100del (CTNS)	ENSP00000458912.1:n.21-132_21-100del
ENST00000574776.5:c.21-132_21-100del (CTNS)	ENSP00000461118.1:n.21-132_21-100del
ENST00000576979.1:c.462-132_462-100del (CTNS)	ENSP00000458457.1:n.462-132_462-100del
NM_001031681.2:c.462-132_462-100del (CTNS)	NP_001026851.2:n.462-132_462-100del
NM_004937.2:c.462-132_462-100del (CTNS)	NP_004928.2:n.462-132_462-100del
XM_005256485.1:c.462-132_462-100del (CTNS)	XP_005256542.1:n.462-132_462-100del
XM_006721463.1:c.462-132_462-100del (CTNS)	XP_006721526.1:n.462-132_462-100del
XM_006721464.1:c.21-132_21-100del (CTNS)	XP_006721527.1:n.21-132_21-100del
XM_011523691.1:c.462-132_462-100del (CTNS)	XP_011521993.1:n.462-132_462-100del
XM_011523692.1:c.21-132_21-100del (CTNS)	XP_011521994.1:n.21-132_21-100del
XR_934003.1:n.1055-132_1055-100del (CTNS)
XR_934158.1:n.1143+469_1143+501del (CTNS-AS1)
XR_934159.1:n.433+469_433+501del (CTNS-AS1)
XR_934160.1:n.438+469_438+501del (CTNS-AS1)
XR_934161.1:n.434-425_434-393del (CTNS-AS1)
XR_934162.1:n.439-425_439-393del (CTNS-AS1)
XR_934163.1:n.1034+469_1034+501del (CTNS-AS1)
XM_005256485.3:c.462-132_462-100del (CTNS)	XP_005256542.1:n.462-132_462-100del
XM_006721463.3:c.462-132_462-100del (CTNS)	XP_006721526.1:n.462-132_462-100del
XM_006721464.2:c.21-132_21-100del (CTNS)	XP_006721527.1:n.21-132_21-100del
XM_011523691.2:c.462-132_462-100del (CTNS)	XP_011521993.1:n.462-132_462-100del
XM_011523692.2:c.21-132_21-100del (CTNS)	XP_011521994.1:n.21-132_21-100del
XM_017024254.1:c.21-132_21-100del (CTNS)	XP_016879743.1:n.21-132_21-100del
XM_017024255.1:c.21-132_21-100del (CTNS)	XP_016879744.1:n.21-132_21-100del
XM_017024256.1:c.21-132_21-100del (CTNS)	XP_016879745.1:n.21-132_21-100del
XM_017024257.1:c.21-132_21-100del (CTNS)	XP_016879746.1:n.21-132_21-100del
XM_017024258.1:c.21-132_21-100del (CTNS)	XP_016879747.1:n.21-132_21-100del
XR_934158.2:n.1160+469_1160+501del (CTNS-AS1)
XR_934159.2:n.450+469_450+501del (CTNS-AS1)
XR_934160.2:n.455+469_455+501del (CTNS-AS1)
XR_934161.2:n.451-425_451-393del (CTNS-AS1)
XR_934162.3:n.456-425_456-393del (CTNS-AS1)
XR_934163.2:n.1051+469_1051+501del (CTNS-AS1)
NM_001374492.1:c.462-132_462-100del (CTNS)	NP_001361421.1:n.462-132_462-100del
NM_001374493.1:c.21-132_21-100del (CTNS)	NP_001361422.1:n.21-132_21-100del
NM_001374494.1:c.21-132_21-100del (CTNS)	NP_001361423.1:n.21-132_21-100del
NM_001374495.1:c.21-132_21-100del (CTNS)	NP_001361424.1:n.21-132_21-100del
NM_001374496.1:c.21-132_21-100del (CTNS)	NP_001361425.1:n.21-132_21-100del
NM_004937.3:c.462-132_462-100del (CTNS) MANE Select	NP_004928.2:n.462-132_462-100del
NM_001031681.3:c.462-132_462-100del (CTNS)	NP_001026851.2:n.462-132_462-100del