Canonical Allele Identifier: CA2635388285

Gene: CTNS

Linked Data

• gnomAD v4: 17-3636715-GC-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636716del , CM000679.2:g.3636716del	GRCh38
NC_000017.10:g.3540010del , CM000679.1:g.3540010del	GRCh37
NC_000017.9:g.3486759del	NCBI36
NG_012489.1:g.5249del
NG_052852.1:g.4607del
NG_012489.2:g.5249del

Transcript Alleles

HGVS	Amino-acid change
ENST00000381870.8:c.-230+8del	ENSP00000371294.3:n.-230+8del
ENST00000673965.1:c.-230+13del	ENSP00000500995.1:n.-230+13del
ENST00000046640.7:c.-345del	ENSP00000046640.3:n.-345del
ENST00000381870.7:c.-230+8del	ENSP00000371294.3:n.-230+8del
NM_001031681.2:c.-230+8del	NP_001026851.2:n.-230+8del
NM_004937.2:c.-345del	NP_004928.2:n.-345del
XM_005256485.1:c.-345del	XP_005256542.1:n.-345del
XM_006721463.1:c.-230+13del	XP_006721526.1:n.-230+13del
XM_006721464.1:c.-701del	XP_006721527.1:n.-701del
XM_011523692.1:c.-706del	XP_011521994.1:n.-706del
XR_934003.1:n.249del
XM_005256485.3:c.-345del	XP_005256542.1:n.-345del
XM_006721463.3:c.-230+13del	XP_006721526.1:n.-230+13del
XM_006721464.2:c.-701del	XP_006721527.1:n.-701del
XM_011523692.2:c.-706del	XP_011521994.1:n.-706del
XM_017024254.1:c.-622del	XP_016879743.1:n.-622del
XM_017024255.1:c.-701del	XP_016879744.1:n.-701del
XM_017024256.1:c.-706del	XP_016879745.1:n.-706del
XM_017024257.1:c.-622del	XP_016879746.1:n.-622del
XM_017024258.1:c.-621del	XP_016879747.1:n.-621del
NM_001031681.3:c.-230+8del	NP_001026851.2:n.-230+8del