Canonical Allele Identifier: CA2733114662

Gene: CTNS

Linked Data

• dbSNP Id: rs2150907342

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3649113_3649115del , CM000679.2:g.3649113_3649115del	GRCh38
NC_000017.10:g.3552407_3552409del , CM000679.1:g.3552407_3552409del	GRCh37
NC_000017.9:g.3499156_3499158del	NCBI36
NG_012489.1:g.17646_17648del
NG_012489.2:g.17646_17648del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.225+182_225+184del MANE Select	ENSP00000046640.4:n.225+182_225+184del
ENST00000381870.8:c.225+182_225+184del	ENSP00000371294.3:n.225+182_225+184del
ENST00000399306.7:c.225+182_225+184del	ENSP00000382245.2:n.225+182_225+184del
ENST00000488623.6:c.-503+182_-503+184del	ENSP00000501016.1:n.-503+182_-503+184del
ENST00000574776.6:c.-112-6108_-112-6106del	ENSP00000461118.2:n.-112-6108_-112-6106del
ENST00000673669.1:c.-217+1591_-217+1593del	ENSP00000501123.1:n.-217+1591_-217+1593del
ENST00000673965.1:c.225+182_225+184del	ENSP00000500995.1:n.225+182_225+184del
ENST00000046640.7:c.225+182_225+184del	ENSP00000046640.3:n.225+182_225+184del
ENST00000381870.7:c.225+182_225+184del	ENSP00000371294.3:n.225+182_225+184del
ENST00000399306.6:c.225+182_225+184del	ENSP00000382245.2:n.225+182_225+184del
ENST00000467663.5:c.140+1591_140+1593del	ENSP00000461056.1:n.140+1591_140+1593del
ENST00000488623.5:n.446+182_446+184del
ENST00000574218.1:c.-216-5885_-216-5883del	ENSP00000458912.1:n.-216-5885_-216-5883del
ENST00000574776.5:c.-112-6108_-112-6106del	ENSP00000461118.1:n.-112-6108_-112-6106del
ENST00000576979.1:c.225+182_225+184del	ENSP00000458457.1:n.225+182_225+184del
NM_001031681.2:c.225+182_225+184del	NP_001026851.2:n.225+182_225+184del
NM_004937.2:c.225+182_225+184del	NP_004928.2:n.225+182_225+184del
XM_005256485.1:c.225+182_225+184del	XP_005256542.1:n.225+182_225+184del
XM_006721463.1:c.225+182_225+184del	XP_006721526.1:n.225+182_225+184del
XM_006721464.1:c.-217+1591_-217+1593del	XP_006721527.1:n.-217+1591_-217+1593del
XM_011523691.1:c.225+182_225+184del	XP_011521993.1:n.225+182_225+184del
XM_011523692.1:c.-217+182_-217+184del	XP_011521994.1:n.-217+182_-217+184del
XR_934003.1:n.818+182_818+184del
XR_934164.1:n.430+1052_430+1054del
XM_005256485.3:c.225+182_225+184del	XP_005256542.1:n.225+182_225+184del
XM_006721463.3:c.225+182_225+184del	XP_006721526.1:n.225+182_225+184del
XM_006721464.2:c.-217+1591_-217+1593del	XP_006721527.1:n.-217+1591_-217+1593del
XM_011523691.2:c.225+182_225+184del	XP_011521993.1:n.225+182_225+184del
XM_011523692.2:c.-217+182_-217+184del	XP_011521994.1:n.-217+182_-217+184del
XM_017024254.1:c.-216-5885_-216-5883del	XP_016879743.1:n.-216-5885_-216-5883del
XM_017024255.1:c.-217+1591_-217+1593del	XP_016879744.1:n.-217+1591_-217+1593del
XM_017024256.1:c.-217+182_-217+184del	XP_016879745.1:n.-217+182_-217+184del
XM_017024257.1:c.-216-5885_-216-5883del	XP_016879746.1:n.-216-5885_-216-5883del
XM_017024258.1:c.-217+1591_-217+1593del	XP_016879747.1:n.-217+1591_-217+1593del
XR_001752758.1:n.452+1052_452+1054del
XR_001752759.1:n.324+1052_324+1054del
XR_001752760.1:n.452+1052_452+1054del
XR_001752761.2:n.452+1052_452+1054del
XR_002958115.1:n.139+1052_139+1054del
XR_934164.2:n.452+1052_452+1054del
NM_001374492.1:c.225+182_225+184del	NP_001361421.1:n.225+182_225+184del
NM_001374493.1:c.-217+1591_-217+1593del	NP_001361422.1:n.-217+1591_-217+1593del
NM_001374494.1:c.-217+182_-217+184del	NP_001361423.1:n.-217+182_-217+184del
NM_001374495.1:c.-216-5885_-216-5883del	NP_001361424.1:n.-216-5885_-216-5883del
NM_001374496.1:c.-217+1591_-217+1593del	NP_001361425.1:n.-217+1591_-217+1593del
NM_004937.3:c.225+182_225+184del MANE Select	NP_004928.2:n.225+182_225+184del
NM_001031681.3:c.225+182_225+184del	NP_001026851.2:n.225+182_225+184del