Canonical Allele Identifier: CA2635388293

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636719-AC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636722del , CM000679.2:g.3636722del	GRCh38
NC_000017.10:g.3540016del , CM000679.1:g.3540016del	GRCh37
NC_000017.9:g.3486765del	NCBI36
NG_012489.1:g.5255del
NG_052852.1:g.4603del
NG_012489.2:g.5255del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-230+14del	ENSP00000371294.3:n.-230+14del
ENST00000673965.1:c.-230+19del	ENSP00000500995.1:n.-230+19del
ENST00000046640.7:c.-339del	ENSP00000046640.3:n.-339del
ENST00000381870.7:c.-230+14del	ENSP00000371294.3:n.-230+14del
NM_001031681.2:c.-230+14del	NP_001026851.2:n.-230+14del
NM_004937.2:c.-339del	NP_004928.2:n.-339del
XM_005256485.1:c.-339del	XP_005256542.1:n.-339del
XM_006721463.1:c.-230+19del	XP_006721526.1:n.-230+19del
XM_006721464.1:c.-695del	XP_006721527.1:n.-695del
XM_011523692.1:c.-700del	XP_011521994.1:n.-700del
XR_934003.1:n.255del
XM_005256485.3:c.-339del	XP_005256542.1:n.-339del
XM_006721463.3:c.-230+19del	XP_006721526.1:n.-230+19del
XM_006721464.2:c.-695del	XP_006721527.1:n.-695del
XM_011523692.2:c.-700del	XP_011521994.1:n.-700del
XM_017024254.1:c.-616del	XP_016879743.1:n.-616del
XM_017024255.1:c.-695del	XP_016879744.1:n.-695del
XM_017024256.1:c.-700del	XP_016879745.1:n.-700del
XM_017024257.1:c.-616del	XP_016879746.1:n.-616del
XM_017024258.1:c.-615del	XP_016879747.1:n.-615del
NM_001031681.3:c.-230+14del	NP_001026851.2:n.-230+14del