Canonical Allele Identifier: CA2573153071
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 1459518
ClinVar RCV Id: RCV002564402
dbSNP Id: rs2142981161

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3659858del , CM000679.2:g.3659858del GRCh38
NC_000017.10:g.3563152del , CM000679.1:g.3563152del GRCh37
NC_000017.9:g.3509901del NCBI36
NG_012489.1:g.28391del
NG_012489.2:g.28391del

Transcript Alleles

HGVS Amino-acid change
ENST00000046640.9:c.853del
ENST00000381870.8:c.853del
ENST00000488623.6:c.100del
ENST00000574776.6:c.412del
ENST00000673669.1:c.412del
ENST00000673965.1:c.853del
ENST00000046640.7:c.853del
ENST00000381870.7:c.853del
NM_001031681.2:c.853del
NM_004937.2:c.853del
XM_005256485.1:c.853del
XM_006721463.1:c.853del
XM_006721464.1:c.412del
XM_011523691.1:c.853del
XM_011523692.1:c.412del
XR_934003.1:n.2779del
XM_005256485.3:c.853del
XM_006721463.3:c.853del
XM_006721464.2:c.412del
XM_011523691.2:c.853del
XM_011523692.2:c.412del
XM_017024254.1:c.412del
XM_017024255.1:c.412del
XM_017024256.1:c.412del
XM_017024257.1:c.412del
XM_017024258.1:c.412del
NM_001374492.1:c.853del
NM_001374493.1:c.412del
NM_001374494.1:c.412del
NM_001374495.1:c.412del
NM_001374496.1:c.412del
NM_004937.3:c.853del
NM_001031681.3:c.853del