Canonical Allele Identifier: CA2243998043

Gene: CTNS CTNS-AS1

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3655094_3655095delinsCA , CM000679.2:g.3655094_3655095delinsCA	GRCh38
NC_000017.10:g.3558388_3558389delinsCA , CM000679.1:g.3558388_3558389delinsCA	GRCh37
NC_000017.9:g.3505137_3505138delinsCA	NCBI36
NG_012489.1:g.23627_23628delinsCA
NG_012489.2:g.23627_23628delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.322_323delinsCA (CTNS) MANE Select	ENSP00000046640.4:p.Gln108=
ENST00000381870.8:c.322_323delinsCA (CTNS)	ENSP00000371294.3:p.Gln108=
ENST00000488623.6:c.-406_-405delinsCA (CTNS)	ENSP00000501016.1:n.-406_-405delinsCA
ENST00000574776.6:c.-112-127_-112-126delinsCA (CTNS)	ENSP00000461118.2:n.-112-127_-112-126delinsCA
ENST00000673669.1:c.-120_-119delinsCA (CTNS)	ENSP00000501123.1:n.-120_-119delinsCA
ENST00000673965.1:c.322_323delinsCA (CTNS)	ENSP00000500995.1:p.Gln108=
ENST00000046640.7:c.322_323delinsCA (CTNS)	ENSP00000046640.3:p.Gln108=
ENST00000381870.7:c.322_323delinsCA (CTNS)	ENSP00000371294.3:p.Gln108=
ENST00000467663.5:c.*75_*76delinsCA (CTNS)	ENSP00000461056.1:n.*75_*76delinsCA
ENST00000574218.1:c.-120_-119delinsCA (CTNS)	ENSP00000458912.1:n.-120_-119delinsCA
ENST00000574776.5:c.-112-127_-112-126delinsCA (CTNS)	ENSP00000461118.1:n.-112-127_-112-126delinsCA
ENST00000576979.1:c.322_323delinsCA (CTNS)	ENSP00000458457.1:p.Gln108=
NM_001031681.2:c.322_323delinsCA (CTNS)	NP_001026851.2:p.Gln108=
NM_004937.2:c.322_323delinsCA (CTNS)	NP_004928.2:p.Gln108=
XM_005256485.1:c.322_323delinsCA (CTNS)	XP_005256542.1:p.Gln108=
XM_006721463.1:c.322_323delinsCA (CTNS)	XP_006721526.1:p.Gln108=
XM_006721464.1:c.-120_-119delinsCA (CTNS)	XP_006721527.1:n.-120_-119delinsCA
XM_011523691.1:c.322_323delinsCA (CTNS)	XP_011521993.1:p.Gln108=
XM_011523692.1:c.-120_-119delinsCA (CTNS)	XP_011521994.1:n.-120_-119delinsCA
XR_934003.1:n.915_916delinsCA (CTNS)
XR_934158.1:n.1143+1761_1143+1762delinsTG (CTNS-AS1)
XR_934159.1:n.433+1761_433+1762delinsTG (CTNS-AS1)
XR_934160.1:n.438+1761_438+1762delinsTG (CTNS-AS1)
XR_934163.1:n.1034+1761_1034+1762delinsTG (CTNS-AS1)
XM_005256485.3:c.322_323delinsCA (CTNS)	XP_005256542.1:p.Gln108=
XM_006721463.3:c.322_323delinsCA (CTNS)	XP_006721526.1:p.Gln108=
XM_006721464.2:c.-120_-119delinsCA (CTNS)	XP_006721527.1:n.-120_-119delinsCA
XM_011523691.2:c.322_323delinsCA (CTNS)	XP_011521993.1:p.Gln108=
XM_011523692.2:c.-120_-119delinsCA (CTNS)	XP_011521994.1:n.-120_-119delinsCA
XM_017024254.1:c.-120_-119delinsCA (CTNS)	XP_016879743.1:n.-120_-119delinsCA
XM_017024255.1:c.-120_-119delinsCA (CTNS)	XP_016879744.1:n.-120_-119delinsCA
XM_017024256.1:c.-120_-119delinsCA (CTNS)	XP_016879745.1:n.-120_-119delinsCA
XM_017024257.1:c.-120_-119delinsCA (CTNS)	XP_016879746.1:n.-120_-119delinsCA
XM_017024258.1:c.-120_-119delinsCA (CTNS)	XP_016879747.1:n.-120_-119delinsCA
XR_934158.2:n.1160+1761_1160+1762delinsTG (CTNS-AS1)
XR_934159.2:n.450+1761_450+1762delinsTG (CTNS-AS1)
XR_934160.2:n.455+1761_455+1762delinsTG (CTNS-AS1)
XR_934163.2:n.1051+1761_1051+1762delinsTG (CTNS-AS1)
NM_001374492.1:c.322_323delinsCA (CTNS)	NP_001361421.1:p.Gln108=
NM_001374493.1:c.-120_-119delinsCA (CTNS)	NP_001361422.1:n.-120_-119delinsCA
NM_001374494.1:c.-120_-119delinsCA (CTNS)	NP_001361423.1:n.-120_-119delinsCA
NM_001374495.1:c.-120_-119delinsCA (CTNS)	NP_001361424.1:n.-120_-119delinsCA
NM_001374496.1:c.-120_-119delinsCA (CTNS)	NP_001361425.1:n.-120_-119delinsCA
NM_004937.3:c.322_323delinsCA (CTNS) MANE Select	NP_004928.2:p.Gln108=
NM_001031681.3:c.322_323delinsCA (CTNS)	NP_001026851.2:p.Gln108=