Canonical Allele Identifier: CA10586237
Gene: CTNS HGNC NCBI

Linked Data

ClinVar Variation Id: 253208
ClinVar RCV Id: RCV000239715
dbSNP Id: rs879255613

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.3647473dup , CM000679.2:g.3647473dup GRCh38
NC_000017.10:g.3550767dup , CM000679.1:g.3550767dup GRCh37
NC_000017.9:g.3497516dup NCBI36
NG_012489.1:g.16006dup
NG_012489.2:g.16006dup

Transcript Alleles

HGVS Amino-acid change
ENST00000046640.9:c.91dup MANE Select ENSP00000046640.4:p.Val31GlyfsTer29
ENST00000381870.8:c.91dup ENSP00000371294.3:p.Val31GlyfsTer29
ENST00000399306.7:c.91dup ENSP00000382245.2:p.Val31GlyfsTer29
ENST00000488623.6:c.-637dup ENSP00000501016.1:n.-637dup
ENST00000574776.6:c.-113+7206dup ENSP00000461118.2:n.-113+7206dup
ENST00000673669.1:c.-266dup ENSP00000501123.1:n.-266dup
ENST00000673965.1:c.91dup ENSP00000500995.1:p.Val31GlyfsTer29
ENST00000046640.7:c.91dup ENSP00000046640.3:p.Val31GlyfsTer29
ENST00000381870.7:c.91dup ENSP00000371294.3:p.Val31GlyfsTer29
ENST00000399306.6:c.91dup ENSP00000382245.2:p.Val31GlyfsTer29
ENST00000452111.5:c.91dup ENSP00000408652.1:p.Val31GlyfsTer29
ENST00000467663.5:c.91dup ENSP00000461056.1:p.Val31GlyfsTer?
ENST00000488623.5:n.312dup
ENST00000495445.5:n.405dup
ENST00000574218.1:c.-216-7525dup ENSP00000458912.1:n.-216-7525dup
ENST00000574776.5:c.-113+7206dup ENSP00000461118.1:n.-113+7206dup
ENST00000576979.1:c.91dup ENSP00000458457.1:p.Val31GlyfsTer29
NM_001031681.2:c.91dup NP_001026851.2:p.Val31GlyfsTer29
NM_004937.2:c.91dup NP_004928.2:p.Val31GlyfsTer29
XM_005256485.1:c.91dup XP_005256542.1:p.Val31GlyfsTer29
XM_006721463.1:c.91dup XP_006721526.1:p.Val31GlyfsTer29
XM_006721464.1:c.-266dup XP_006721527.1:n.-266dup
XM_011523691.1:c.91dup XP_011521993.1:p.Val31GlyfsTer29
XM_011523692.1:c.-351dup XP_011521994.1:n.-351dup
XR_934003.1:n.684dup
XR_934164.1:n.431-2298dup
XM_005256485.3:c.91dup XP_005256542.1:p.Val31GlyfsTer29
XM_006721463.3:c.91dup XP_006721526.1:p.Val31GlyfsTer29
XM_006721464.2:c.-266dup XP_006721527.1:n.-266dup
XM_011523691.2:c.91dup XP_011521993.1:p.Val31GlyfsTer29
XM_011523692.2:c.-351dup XP_011521994.1:n.-351dup
XM_017024254.1:c.-217+7206dup XP_016879743.1:n.-217+7206dup
XM_017024255.1:c.-266dup XP_016879744.1:n.-266dup
XM_017024256.1:c.-351dup XP_016879745.1:n.-351dup
XM_017024257.1:c.-217+7206dup XP_016879746.1:n.-217+7206dup
XM_017024258.1:c.-266dup XP_016879747.1:n.-266dup
XR_001752758.1:n.453-2298dup
XR_001752759.1:n.325-2298dup
XR_001752760.1:n.453-2298dup
XR_001752761.2:n.452+2691dup
XR_002958115.1:n.140-2298dup
XR_934164.2:n.453-2298dup
NM_001374492.1:c.91dup NP_001361421.1:p.Val31GlyfsTer29
NM_001374493.1:c.-266dup NP_001361422.1:n.-266dup
NM_001374494.1:c.-351dup NP_001361423.1:n.-351dup
NM_001374495.1:c.-217+7206dup NP_001361424.1:n.-217+7206dup
NM_001374496.1:c.-266dup NP_001361425.1:n.-266dup
NM_004937.3:c.91dup MANE Select NP_004928.2:p.Val31GlyfsTer29
NM_001031681.3:c.91dup NP_001026851.2:p.Val31GlyfsTer29