Canonical Allele Identifier: CA2580093573

Gene: CTNS

Linked Data

• ClinVar Variation Id: 2017872
• ClinVar RCV Id: RCV002857093
• gnomAD v4: 17-3660234-AGACCAGTG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3660238_3660245del , CM000679.2:g.3660238_3660245del	GRCh38
NC_000017.10:g.3563532_3563539del , CM000679.1:g.3563532_3563539del	GRCh37
NC_000017.9:g.3510281_3510288del	NCBI36
NG_012489.1:g.28771_28778del
NG_012489.2:g.28771_28778del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.973_980del
ENST00000381870.8:c.973_980del
ENST00000488623.6:c.220_227del
ENST00000574776.6:c.532_539del
ENST00000673669.1:c.532_539del
ENST00000673965.1:c.973_980del
ENST00000046640.7:c.973_980del
ENST00000381870.7:c.973_980del
NM_001031681.2:c.973_980del
NM_004937.2:c.973_980del
XM_005256485.1:c.973_980del
XM_006721463.1:c.973_980del
XM_006721464.1:c.532_539del
XM_011523691.1:c.973_980del
XM_011523692.1:c.532_539del
XM_005256485.3:c.973_980del
XM_006721463.3:c.973_980del
XM_006721464.2:c.532_539del
XM_011523691.2:c.973_980del
XM_011523692.2:c.532_539del
XM_017024254.1:c.532_539del
XM_017024255.1:c.532_539del
XM_017024256.1:c.532_539del
XM_017024257.1:c.532_539del
XM_017024258.1:c.532_539del
NM_001374492.1:c.973_980del
NM_001374493.1:c.532_539del
NM_001374494.1:c.532_539del
NM_001374495.1:c.532_539del
NM_001374496.1:c.532_539del
NM_004937.3:c.973_980del
NM_001031681.3:c.973_980del