Canonical Allele Identifier: CA10586236

Gene: CTNS CTNS-AS1

Linked Data

• ClinVar Variation Id: 253206
• ClinVar RCV Id: RCV002279718 ; RCV003765489
• dbSNP Id: rs879255614
• gnomAD v4: 17-3655026-CCT-C
• MyVariant Identifiers: chr17:g.3558323_3558324del (hg19) ; chr17:g.3655029_3655030del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3655029_3655030del , CM000679.2:g.3655029_3655030del	GRCh38
NC_000017.10:g.3558323_3558324del , CM000679.1:g.3558323_3558324del	GRCh37
NC_000017.9:g.3505072_3505073del	NCBI36
NG_012489.1:g.23562_23563del
NG_012489.2:g.23562_23563del

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.257_258del (CTNS) MANE Select	ENSP00000046640.4:p.Ser86PhefsTer?
ENST00000381870.8:c.257_258del (CTNS)	ENSP00000371294.3:p.Ser86PhefsTer?
ENST00000488623.6:c.-471_-470del (CTNS)	ENSP00000501016.1:n.-471_-470del
ENST00000574776.6:c.-112-192_-112-191del (CTNS)	ENSP00000461118.2:n.-112-192_-112-191del
ENST00000673669.1:c.-185_-184del (CTNS)	ENSP00000501123.1:n.-185_-184del
ENST00000673965.1:c.257_258del (CTNS)	ENSP00000500995.1:p.Ser86PhefsTer?
ENST00000046640.7:c.257_258del (CTNS)	ENSP00000046640.3:p.Ser86PhefsTer?
ENST00000381870.7:c.257_258del (CTNS)	ENSP00000371294.3:p.Ser86PhefsTer?
ENST00000467663.5:c.*10_*11del (CTNS)	ENSP00000461056.1:n.*10_*11del
ENST00000488623.5:n.478_479del (CTNS)
ENST00000574218.1:c.-185_-184del (CTNS)	ENSP00000458912.1:n.-185_-184del
ENST00000574776.5:c.-112-192_-112-191del (CTNS)	ENSP00000461118.1:n.-112-192_-112-191del
ENST00000576979.1:c.257_258del (CTNS)	ENSP00000458457.1:p.Ser86PhefsTer?
NM_001031681.2:c.257_258del (CTNS)	NP_001026851.2:p.Ser86PhefsTer?
NM_004937.2:c.257_258del (CTNS)	NP_004928.2:p.Ser86PhefsTer?
XM_005256485.1:c.257_258del (CTNS)	XP_005256542.1:p.Ser86PhefsTer?
XM_006721463.1:c.257_258del (CTNS)	XP_006721526.1:p.Ser86PhefsTer?
XM_006721464.1:c.-185_-184del (CTNS)	XP_006721527.1:n.-185_-184del
XM_011523691.1:c.257_258del (CTNS)	XP_011521993.1:p.Ser86PhefsTer?
XM_011523692.1:c.-185_-184del (CTNS)	XP_011521994.1:n.-185_-184del
XR_934003.1:n.850_851del (CTNS)
XR_934158.1:n.1143+1828_1143+1829del (CTNS-AS1)
XR_934159.1:n.433+1828_433+1829del (CTNS-AS1)
XR_934160.1:n.438+1828_438+1829del (CTNS-AS1)
XR_934163.1:n.1034+1828_1034+1829del (CTNS-AS1)
XM_005256485.3:c.257_258del (CTNS)	XP_005256542.1:p.Ser86PhefsTer?
XM_006721463.3:c.257_258del (CTNS)	XP_006721526.1:p.Ser86PhefsTer?
XM_006721464.2:c.-185_-184del (CTNS)	XP_006721527.1:n.-185_-184del
XM_011523691.2:c.257_258del (CTNS)	XP_011521993.1:p.Ser86PhefsTer?
XM_011523692.2:c.-185_-184del (CTNS)	XP_011521994.1:n.-185_-184del
XM_017024254.1:c.-185_-184del (CTNS)	XP_016879743.1:n.-185_-184del
XM_017024255.1:c.-185_-184del (CTNS)	XP_016879744.1:n.-185_-184del
XM_017024256.1:c.-185_-184del (CTNS)	XP_016879745.1:n.-185_-184del
XM_017024257.1:c.-185_-184del (CTNS)	XP_016879746.1:n.-185_-184del
XM_017024258.1:c.-185_-184del (CTNS)	XP_016879747.1:n.-185_-184del
XR_934158.2:n.1160+1828_1160+1829del (CTNS-AS1)
XR_934159.2:n.450+1828_450+1829del (CTNS-AS1)
XR_934160.2:n.455+1828_455+1829del (CTNS-AS1)
XR_934163.2:n.1051+1828_1051+1829del (CTNS-AS1)
NM_001374492.1:c.257_258del (CTNS)	NP_001361421.1:p.Ser86PhefsTer?
NM_001374493.1:c.-185_-184del (CTNS)	NP_001361422.1:n.-185_-184del
NM_001374494.1:c.-185_-184del (CTNS)	NP_001361423.1:n.-185_-184del
NM_001374495.1:c.-185_-184del (CTNS)	NP_001361424.1:n.-185_-184del
NM_001374496.1:c.-185_-184del (CTNS)	NP_001361425.1:n.-185_-184del
NM_004937.3:c.257_258del (CTNS) MANE Select	NP_004928.2:p.Ser86PhefsTer?
NM_001031681.3:c.257_258del (CTNS)	NP_001026851.2:p.Ser86PhefsTer?