Canonical Allele Identifier: CA2635386839

Gene: CTNS

Linked Data

• ClinVar Variation Id: 2681015
• ClinVar RCV Id: RCV003475808
• gnomAD v4: 17-3647519-TGCGGTAAGTTCCTGGGCCTG-T

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3647523_3647542del , CM000679.2:g.3647523_3647542del	GRCh38
NC_000017.10:g.3550817_3550836del , CM000679.1:g.3550817_3550836del	GRCh37
NC_000017.9:g.3497566_3497585del	NCBI36
NG_012489.1:g.16056_16075del
NG_012489.2:g.16056_16075del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.140+1_140+20del
ENST00000381870.8:c.140+1_140+20del
ENST00000399306.7:c.140+1_140+20del
ENST00000488623.6:c.-588+1_-588+20del
ENST00000574776.6:c.-113+7256_-113+7275del	ENSP00000461118.2:n.-113+7256_-113+7275del
ENST00000673669.1:c.-217+1_-217+20del
ENST00000673965.1:c.140+1_140+20del
ENST00000046640.7:c.140+1_140+20del
ENST00000381870.7:c.140+1_140+20del
ENST00000399306.6:c.140+1_140+20del
ENST00000452111.5:c.140+1_140+20del
ENST00000467663.5:c.140+1_140+20del
ENST00000488623.5:n.361+1_361+20del
ENST00000495445.5:n.455_474del
ENST00000574218.1:c.-216-7475_-216-7456del	ENSP00000458912.1:n.-216-7475_-216-7456del
ENST00000574776.5:c.-113+7256_-113+7275del	ENSP00000461118.1:n.-113+7256_-113+7275del
ENST00000576979.1:c.140+1_140+20del
NM_001031681.2:c.140+1_140+20del
NM_004937.2:c.140+1_140+20del
XM_005256485.1:c.140+1_140+20del
XM_006721463.1:c.140+1_140+20del
XM_006721464.1:c.-217+1_-217+20del
XM_011523691.1:c.140+1_140+20del
XM_011523692.1:c.-302+1_-302+20del
XR_934003.1:n.733+1_733+20del
XR_934164.1:n.431-2364_431-2345del
XM_005256485.3:c.140+1_140+20del
XM_006721463.3:c.140+1_140+20del
XM_006721464.2:c.-217+1_-217+20del
XM_011523691.2:c.140+1_140+20del
XM_011523692.2:c.-302+1_-302+20del
XM_017024254.1:c.-217+7256_-217+7275del	XP_016879743.1:n.-217+7256_-217+7275del
XM_017024255.1:c.-217+1_-217+20del
XM_017024256.1:c.-302+1_-302+20del
XM_017024257.1:c.-217+7256_-217+7275del	XP_016879746.1:n.-217+7256_-217+7275del
XM_017024258.1:c.-217+1_-217+20del
XR_001752758.1:n.453-2364_453-2345del
XR_001752759.1:n.325-2364_325-2345del
XR_001752760.1:n.453-2364_453-2345del
XR_001752761.2:n.452+2625_452+2644del
XR_002958115.1:n.140-2364_140-2345del
XR_934164.2:n.453-2364_453-2345del
NM_001374492.1:c.140+1_140+20del
NM_001374493.1:c.-217+1_-217+20del
NM_001374494.1:c.-302+1_-302+20del
NM_001374495.1:c.-217+7256_-217+7275del	NP_001361424.1:n.-217+7256_-217+7275del
NM_001374496.1:c.-217+1_-217+20del
NM_004937.3:c.140+1_140+20del
NM_001031681.3:c.140+1_140+20del