Canonical Allele Identifier: CA2243994743

Gene: CTNS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3649137_3649138delinsCA , CM000679.2:g.3649137_3649138delinsCA	GRCh38
NC_000017.10:g.3552431_3552432delinsCA , CM000679.1:g.3552431_3552432delinsCA	GRCh37
NC_000017.9:g.3499180_3499181delinsCA	NCBI36
NG_012489.1:g.17670_17671delinsCA
NG_012489.2:g.17670_17671delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.225+206_225+207delinsCA MANE Select	ENSP00000046640.4:n.225+206_225+207delinsCA
ENST00000381870.8:c.225+206_225+207delinsCA	ENSP00000371294.3:n.225+206_225+207delinsCA
ENST00000399306.7:c.225+206_225+207delinsCA	ENSP00000382245.2:n.225+206_225+207delinsCA
ENST00000488623.6:c.-503+206_-503+207delinsCA	ENSP00000501016.1:n.-503+206_-503+207delinsCA
ENST00000574776.6:c.-112-6084_-112-6083delinsCA	ENSP00000461118.2:n.-112-6084_-112-6083delinsCA
ENST00000673669.1:c.-217+1615_-217+1616delinsCA	ENSP00000501123.1:n.-217+1615_-217+1616delinsCA
ENST00000673965.1:c.225+206_225+207delinsCA	ENSP00000500995.1:n.225+206_225+207delinsCA
ENST00000046640.7:c.225+206_225+207delinsCA	ENSP00000046640.3:n.225+206_225+207delinsCA
ENST00000381870.7:c.225+206_225+207delinsCA	ENSP00000371294.3:n.225+206_225+207delinsCA
ENST00000399306.6:c.225+206_225+207delinsCA	ENSP00000382245.2:n.225+206_225+207delinsCA
ENST00000467663.5:c.140+1615_140+1616delinsCA	ENSP00000461056.1:n.140+1615_140+1616delinsCA
ENST00000488623.5:n.446+206_446+207delinsCA
ENST00000574218.1:c.-216-5861_-216-5860delinsCA	ENSP00000458912.1:n.-216-5861_-216-5860delinsCA
ENST00000574776.5:c.-112-6084_-112-6083delinsCA	ENSP00000461118.1:n.-112-6084_-112-6083delinsCA
ENST00000576979.1:c.225+206_225+207delinsCA	ENSP00000458457.1:n.225+206_225+207delinsCA
NM_001031681.2:c.225+206_225+207delinsCA	NP_001026851.2:n.225+206_225+207delinsCA
NM_004937.2:c.225+206_225+207delinsCA	NP_004928.2:n.225+206_225+207delinsCA
XM_005256485.1:c.225+206_225+207delinsCA	XP_005256542.1:n.225+206_225+207delinsCA
XM_006721463.1:c.225+206_225+207delinsCA	XP_006721526.1:n.225+206_225+207delinsCA
XM_006721464.1:c.-217+1615_-217+1616delinsCA	XP_006721527.1:n.-217+1615_-217+1616delinsCA
XM_011523691.1:c.225+206_225+207delinsCA	XP_011521993.1:n.225+206_225+207delinsCA
XM_011523692.1:c.-217+206_-217+207delinsCA	XP_011521994.1:n.-217+206_-217+207delinsCA
XR_934003.1:n.818+206_818+207delinsCA
XR_934164.1:n.430+1026_430+1027delinsTG
XM_005256485.3:c.225+206_225+207delinsCA	XP_005256542.1:n.225+206_225+207delinsCA
XM_006721463.3:c.225+206_225+207delinsCA	XP_006721526.1:n.225+206_225+207delinsCA
XM_006721464.2:c.-217+1615_-217+1616delinsCA	XP_006721527.1:n.-217+1615_-217+1616delinsCA
XM_011523691.2:c.225+206_225+207delinsCA	XP_011521993.1:n.225+206_225+207delinsCA
XM_011523692.2:c.-217+206_-217+207delinsCA	XP_011521994.1:n.-217+206_-217+207delinsCA
XM_017024254.1:c.-216-5861_-216-5860delinsCA	XP_016879743.1:n.-216-5861_-216-5860delinsCA
XM_017024255.1:c.-217+1615_-217+1616delinsCA	XP_016879744.1:n.-217+1615_-217+1616delinsCA
XM_017024256.1:c.-217+206_-217+207delinsCA	XP_016879745.1:n.-217+206_-217+207delinsCA
XM_017024257.1:c.-216-5861_-216-5860delinsCA	XP_016879746.1:n.-216-5861_-216-5860delinsCA
XM_017024258.1:c.-217+1615_-217+1616delinsCA	XP_016879747.1:n.-217+1615_-217+1616delinsCA
XR_001752758.1:n.452+1026_452+1027delinsTG
XR_001752759.1:n.324+1026_324+1027delinsTG
XR_001752760.1:n.452+1026_452+1027delinsTG
XR_001752761.2:n.452+1026_452+1027delinsTG
XR_002958115.1:n.139+1026_139+1027delinsTG
XR_934164.2:n.452+1026_452+1027delinsTG
NM_001374492.1:c.225+206_225+207delinsCA	NP_001361421.1:n.225+206_225+207delinsCA
NM_001374493.1:c.-217+1615_-217+1616delinsCA	NP_001361422.1:n.-217+1615_-217+1616delinsCA
NM_001374494.1:c.-217+206_-217+207delinsCA	NP_001361423.1:n.-217+206_-217+207delinsCA
NM_001374495.1:c.-216-5861_-216-5860delinsCA	NP_001361424.1:n.-216-5861_-216-5860delinsCA
NM_001374496.1:c.-217+1615_-217+1616delinsCA	NP_001361425.1:n.-217+1615_-217+1616delinsCA
NM_004937.3:c.225+206_225+207delinsCA MANE Select	NP_004928.2:n.225+206_225+207delinsCA
NM_001031681.3:c.225+206_225+207delinsCA	NP_001026851.2:n.225+206_225+207delinsCA