Canonical Allele Identifier: CA2243993386

Gene: CTNS

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3647500_3647501delinsAC , CM000679.2:g.3647500_3647501delinsAC	GRCh38
NC_000017.10:g.3550794_3550795delinsAC , CM000679.1:g.3550794_3550795delinsAC	GRCh37
NC_000017.9:g.3497543_3497544delinsAC	NCBI36
NG_012489.1:g.16033_16034delinsAC
NG_012489.2:g.16033_16034delinsAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.118_119delinsAC MANE Select	ENSP00000046640.4:p.Thr40=
ENST00000381870.8:c.118_119delinsAC	ENSP00000371294.3:p.Thr40=
ENST00000399306.7:c.118_119delinsAC	ENSP00000382245.2:p.Thr40=
ENST00000488623.6:c.-610_-609delinsAC	ENSP00000501016.1:n.-610_-609delinsAC
ENST00000574776.6:c.-113+7233_-113+7234delinsAC	ENSP00000461118.2:n.-113+7233_-113+7234delinsAC
ENST00000673669.1:c.-239_-238delinsAC	ENSP00000501123.1:n.-239_-238delinsAC
ENST00000673965.1:c.118_119delinsAC	ENSP00000500995.1:p.Thr40=
ENST00000046640.7:c.118_119delinsAC	ENSP00000046640.3:p.Thr40=
ENST00000381870.7:c.118_119delinsAC	ENSP00000371294.3:p.Thr40=
ENST00000399306.6:c.118_119delinsAC	ENSP00000382245.2:p.Thr40=
ENST00000452111.5:c.118_119delinsAC	ENSP00000408652.1:p.Thr40=
ENST00000467663.5:c.118_119delinsAC	ENSP00000461056.1:p.Thr40=
ENST00000488623.5:n.339_340delinsAC
ENST00000495445.5:n.432_433delinsAC
ENST00000574218.1:c.-216-7498_-216-7497delinsAC	ENSP00000458912.1:n.-216-7498_-216-7497delinsAC
ENST00000574776.5:c.-113+7233_-113+7234delinsAC	ENSP00000461118.1:n.-113+7233_-113+7234delinsAC
ENST00000576979.1:c.118_119delinsAC	ENSP00000458457.1:p.Thr40=
NM_001031681.2:c.118_119delinsAC	NP_001026851.2:p.Thr40=
NM_004937.2:c.118_119delinsAC	NP_004928.2:p.Thr40=
XM_005256485.1:c.118_119delinsAC	XP_005256542.1:p.Thr40=
XM_006721463.1:c.118_119delinsAC	XP_006721526.1:p.Thr40=
XM_006721464.1:c.-239_-238delinsAC	XP_006721527.1:n.-239_-238delinsAC
XM_011523691.1:c.118_119delinsAC	XP_011521993.1:p.Thr40=
XM_011523692.1:c.-324_-323delinsAC	XP_011521994.1:n.-324_-323delinsAC
XR_934003.1:n.711_712delinsAC
XR_934164.1:n.431-2326_431-2325delinsGT
XM_005256485.3:c.118_119delinsAC	XP_005256542.1:p.Thr40=
XM_006721463.3:c.118_119delinsAC	XP_006721526.1:p.Thr40=
XM_006721464.2:c.-239_-238delinsAC	XP_006721527.1:n.-239_-238delinsAC
XM_011523691.2:c.118_119delinsAC	XP_011521993.1:p.Thr40=
XM_011523692.2:c.-324_-323delinsAC	XP_011521994.1:n.-324_-323delinsAC
XM_017024254.1:c.-217+7233_-217+7234delinsAC	XP_016879743.1:n.-217+7233_-217+7234delinsAC
XM_017024255.1:c.-239_-238delinsAC	XP_016879744.1:n.-239_-238delinsAC
XM_017024256.1:c.-324_-323delinsAC	XP_016879745.1:n.-324_-323delinsAC
XM_017024257.1:c.-217+7233_-217+7234delinsAC	XP_016879746.1:n.-217+7233_-217+7234delinsAC
XM_017024258.1:c.-239_-238delinsAC	XP_016879747.1:n.-239_-238delinsAC
XR_001752758.1:n.453-2326_453-2325delinsGT
XR_001752759.1:n.325-2326_325-2325delinsGT
XR_001752760.1:n.453-2326_453-2325delinsGT
XR_001752761.2:n.452+2663_452+2664delinsGT
XR_002958115.1:n.140-2326_140-2325delinsGT
XR_934164.2:n.453-2326_453-2325delinsGT
NM_001374492.1:c.118_119delinsAC	NP_001361421.1:p.Thr40=
NM_001374493.1:c.-239_-238delinsAC	NP_001361422.1:n.-239_-238delinsAC
NM_001374494.1:c.-324_-323delinsAC	NP_001361423.1:n.-324_-323delinsAC
NM_001374495.1:c.-217+7233_-217+7234delinsAC	NP_001361424.1:n.-217+7233_-217+7234delinsAC
NM_001374496.1:c.-239_-238delinsAC	NP_001361425.1:n.-239_-238delinsAC
NM_004937.3:c.118_119delinsAC MANE Select	NP_004928.2:p.Thr40=
NM_001031681.3:c.118_119delinsAC	NP_001026851.2:p.Thr40=