Canonical Allele Identifier: CA2243999070

Gene: CTNS CTNS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656705_3656706delinsAG , CM000679.2:g.3656705_3656706delinsAG	GRCh38
NC_000017.10:g.3559999_3560000delinsAG , CM000679.1:g.3559999_3560000delinsAG	GRCh37
NC_000017.9:g.3506748_3506749delinsAG	NCBI36
NG_012489.1:g.25238_25239delinsAG
NG_012489.2:g.25238_25239delinsAG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.591_592delinsAG (CTNS) MANE Select	ENSP00000046640.4:p.Gly197=
ENST00000381870.8:c.591_592delinsAG (CTNS)	ENSP00000371294.3:p.Gly197=
ENST00000488623.6:c.-163_-162delinsAG (CTNS)	ENSP00000501016.1:n.-163_-162delinsAG
ENST00000574776.6:c.150_151delinsAG (CTNS)	ENSP00000461118.2:p.Gly50=
ENST00000673669.1:c.150_151delinsAG (CTNS)	ENSP00000501123.1:p.Gly50=
ENST00000673965.1:c.591_592delinsAG (CTNS)	ENSP00000500995.1:p.Gly197=
ENST00000046640.7:c.591_592delinsAG (CTNS)	ENSP00000046640.3:p.Gly197=
ENST00000381870.7:c.591_592delinsAG (CTNS)	ENSP00000371294.3:p.Gly197=
NM_001031681.2:c.591_592delinsAG (CTNS)	NP_001026851.2:p.Gly197=
NM_004937.2:c.591_592delinsAG (CTNS)	NP_004928.2:p.Gly197=
XM_005256485.1:c.591_592delinsAG (CTNS)	XP_005256542.1:p.Gly197=
XM_006721463.1:c.591_592delinsAG (CTNS)	XP_006721526.1:p.Gly197=
XM_006721464.1:c.150_151delinsAG (CTNS)	XP_006721527.1:p.Gly50=
XM_011523691.1:c.591_592delinsAG (CTNS)	XP_011521993.1:p.Gly197=
XM_011523692.1:c.150_151delinsAG (CTNS)	XP_011521994.1:p.Gly50=
XR_934003.1:n.1184_1185delinsAG (CTNS)
XR_934158.1:n.1143+150_1143+151delinsCT (CTNS-AS1)
XR_934159.1:n.433+150_433+151delinsCT (CTNS-AS1)
XR_934160.1:n.438+150_438+151delinsCT (CTNS-AS1)
XR_934161.1:n.433+150_433+151delinsCT (CTNS-AS1)
XR_934162.1:n.438+150_438+151delinsCT (CTNS-AS1)
XR_934163.1:n.1034+150_1034+151delinsCT (CTNS-AS1)
XM_005256485.3:c.591_592delinsAG (CTNS)	XP_005256542.1:p.Gly197=
XM_006721463.3:c.591_592delinsAG (CTNS)	XP_006721526.1:p.Gly197=
XM_006721464.2:c.150_151delinsAG (CTNS)	XP_006721527.1:p.Gly50=
XM_011523691.2:c.591_592delinsAG (CTNS)	XP_011521993.1:p.Gly197=
XM_011523692.2:c.150_151delinsAG (CTNS)	XP_011521994.1:p.Gly50=
XM_017024254.1:c.150_151delinsAG (CTNS)	XP_016879743.1:p.Gly50=
XM_017024255.1:c.150_151delinsAG (CTNS)	XP_016879744.1:p.Gly50=
XM_017024256.1:c.150_151delinsAG (CTNS)	XP_016879745.1:p.Gly50=
XM_017024257.1:c.150_151delinsAG (CTNS)	XP_016879746.1:p.Gly50=
XM_017024258.1:c.150_151delinsAG (CTNS)	XP_016879747.1:p.Gly50=
XR_934158.2:n.1160+150_1160+151delinsCT (CTNS-AS1)
XR_934159.2:n.450+150_450+151delinsCT (CTNS-AS1)
XR_934160.2:n.455+150_455+151delinsCT (CTNS-AS1)
XR_934161.2:n.450+150_450+151delinsCT (CTNS-AS1)
XR_934162.3:n.455+150_455+151delinsCT (CTNS-AS1)
XR_934163.2:n.1051+150_1051+151delinsCT (CTNS-AS1)
NM_001374492.1:c.591_592delinsAG (CTNS)	NP_001361421.1:p.Gly197=
NM_001374493.1:c.150_151delinsAG (CTNS)	NP_001361422.1:p.Gly50=
NM_001374494.1:c.150_151delinsAG (CTNS)	NP_001361423.1:p.Gly50=
NM_001374495.1:c.150_151delinsAG (CTNS)	NP_001361424.1:p.Gly50=
NM_001374496.1:c.150_151delinsAG (CTNS)	NP_001361425.1:p.Gly50=
NM_004937.3:c.591_592delinsAG (CTNS) MANE Select	NP_004928.2:p.Gly197=
NM_001031681.3:c.591_592delinsAG (CTNS)	NP_001026851.2:p.Gly197=