Canonical Allele Identifier: CA2635423726

Gene: CTNS CTNS-AS1

Linked Data

• gnomAD v4: 17-3656488-G-GTCATTGGTCTGA

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656489_3656500dup , CM000679.2:g.3656489_3656500dup	GRCh38
NC_000017.10:g.3559783_3559794dup , CM000679.1:g.3559783_3559794dup	GRCh37
NC_000017.9:g.3506532_3506543dup	NCBI36
NG_012489.1:g.25022_25033dup
NG_012489.2:g.25022_25033dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000046640.9:c.464_475dup (CTNS) MANE Select	ENSP00000046640.4:p.Leu158_Ser159insIleIleGlyLeu
ENST00000381870.8:c.464_475dup (CTNS)	ENSP00000371294.3:p.Leu158_Ser159insIleIleGlyLeu
ENST00000488623.6:c.-290_-279dup (CTNS)	ENSP00000501016.1:n.-290_-279dup
ENST00000574776.6:c.23_34dup (CTNS)	ENSP00000461118.2:p.Leu11_Ser12insIleIleGlyLeu
ENST00000673669.1:c.23_34dup (CTNS)	ENSP00000501123.1:p.Leu11_Ser12insIleIleGlyLeu
ENST00000673965.1:c.464_475dup (CTNS)	ENSP00000500995.1:p.Leu158_Ser159insIleIleGlyLeu
ENST00000046640.7:c.464_475dup (CTNS)	ENSP00000046640.3:p.Leu158_Ser159insIleIleGlyLeu
ENST00000381870.7:c.464_475dup (CTNS)	ENSP00000371294.3:p.Leu158_Ser159insIleIleGlyLeu
ENST00000574218.1:c.23_34dup (CTNS)	ENSP00000458912.1:p.Leu11_Ser12insIleIleGlyLeu
ENST00000574776.5:c.23_34dup (CTNS)	ENSP00000461118.1:p.Leu11_Ser12insIleIleGlyLeu
ENST00000576979.1:c.464_475dup (CTNS)	ENSP00000458457.1:p.Leu158_Ser159insIleIleGlyLeu
NM_001031681.2:c.464_475dup (CTNS)	NP_001026851.2:p.Leu158_Ser159insIleIleGlyLeu
NM_004937.2:c.464_475dup (CTNS)	NP_004928.2:p.Leu158_Ser159insIleIleGlyLeu
XM_005256485.1:c.464_475dup (CTNS)	XP_005256542.1:p.Leu158_Ser159insIleIleGlyLeu
XM_006721463.1:c.464_475dup (CTNS)	XP_006721526.1:p.Leu158_Ser159insIleIleGlyLeu
XM_006721464.1:c.23_34dup (CTNS)	XP_006721527.1:p.Leu11_Ser12insIleIleGlyLeu
XM_011523691.1:c.464_475dup (CTNS)	XP_011521993.1:p.Leu158_Ser159insIleIleGlyLeu
XM_011523692.1:c.23_34dup (CTNS)	XP_011521994.1:p.Leu11_Ser12insIleIleGlyLeu
XR_934003.1:n.1057_1068dup (CTNS)
XR_934158.1:n.1143+356_1143+367dup (CTNS-AS1)
XR_934159.1:n.433+356_433+367dup (CTNS-AS1)
XR_934160.1:n.438+356_438+367dup (CTNS-AS1)
XR_934161.1:n.433+356_433+367dup (CTNS-AS1)
XR_934162.1:n.438+356_438+367dup (CTNS-AS1)
XR_934163.1:n.1034+356_1034+367dup (CTNS-AS1)
XM_005256485.3:c.464_475dup (CTNS)	XP_005256542.1:p.Leu158_Ser159insIleIleGlyLeu
XM_006721463.3:c.464_475dup (CTNS)	XP_006721526.1:p.Leu158_Ser159insIleIleGlyLeu
XM_006721464.2:c.23_34dup (CTNS)	XP_006721527.1:p.Leu11_Ser12insIleIleGlyLeu
XM_011523691.2:c.464_475dup (CTNS)	XP_011521993.1:p.Leu158_Ser159insIleIleGlyLeu
XM_011523692.2:c.23_34dup (CTNS)	XP_011521994.1:p.Leu11_Ser12insIleIleGlyLeu
XM_017024254.1:c.23_34dup (CTNS)	XP_016879743.1:p.Leu11_Ser12insIleIleGlyLeu
XM_017024255.1:c.23_34dup (CTNS)	XP_016879744.1:p.Leu11_Ser12insIleIleGlyLeu
XM_017024256.1:c.23_34dup (CTNS)	XP_016879745.1:p.Leu11_Ser12insIleIleGlyLeu
XM_017024257.1:c.23_34dup (CTNS)	XP_016879746.1:p.Leu11_Ser12insIleIleGlyLeu
XM_017024258.1:c.23_34dup (CTNS)	XP_016879747.1:p.Leu11_Ser12insIleIleGlyLeu
XR_934158.2:n.1160+356_1160+367dup (CTNS-AS1)
XR_934159.2:n.450+356_450+367dup (CTNS-AS1)
XR_934160.2:n.455+356_455+367dup (CTNS-AS1)
XR_934161.2:n.450+356_450+367dup (CTNS-AS1)
XR_934162.3:n.455+356_455+367dup (CTNS-AS1)
XR_934163.2:n.1051+356_1051+367dup (CTNS-AS1)
NM_001374492.1:c.464_475dup (CTNS)	NP_001361421.1:p.Leu158_Ser159insIleIleGlyLeu
NM_001374493.1:c.23_34dup (CTNS)	NP_001361422.1:p.Leu11_Ser12insIleIleGlyLeu
NM_001374494.1:c.23_34dup (CTNS)	NP_001361423.1:p.Leu11_Ser12insIleIleGlyLeu
NM_001374495.1:c.23_34dup (CTNS)	NP_001361424.1:p.Leu11_Ser12insIleIleGlyLeu
NM_001374496.1:c.23_34dup (CTNS)	NP_001361425.1:p.Leu11_Ser12insIleIleGlyLeu
NM_004937.3:c.464_475dup (CTNS) MANE Select	NP_004928.2:p.Leu158_Ser159insIleIleGlyLeu
NM_001031681.3:c.464_475dup (CTNS)	NP_001026851.2:p.Leu158_Ser159insIleIleGlyLeu