Canonical Allele Identifier: CA287017278

Gene: CTNS CTNS-AS1

Linked Data

• dbSNP Id: rs74213111
• gnomAD v2: 17-3559641-CCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCT-C
• gnomAD v3: 17-3656347-CCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCT-C
• gnomAD v4: 17-3656347-CCTGCCCTGCCCCTCCACCCCCGCCAGTCCTCACCCT-C
• MyVariant Identifiers: chr17:g.3559678_3559713del (hg19) ; chr17:g.3559642_3559677del (hg19) ; chr17:g.3656384_3656419del (hg38) ; chr17:g.3656348_3656383del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3656392_3656427del , CM000679.2:g.3656392_3656427del	GRCh38
NC_000017.10:g.3559686_3559721del , CM000679.1:g.3559686_3559721del	GRCh37
NC_000017.9:g.3506435_3506470del	NCBI36
NG_012489.1:g.24925_24960del
NG_012489.2:g.24925_24960del

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.462-95_462-60del (CTNS) MANE Select	ENSP00000046640.4:n.462-95_462-60del
ENST00000381870.8:c.462-95_462-60del (CTNS)	ENSP00000371294.3:n.462-95_462-60del
ENST00000488623.6:c.-292-95_-292-60del (CTNS)	ENSP00000501016.1:n.-292-95_-292-60del
ENST00000574776.6:c.21-95_21-60del (CTNS)	ENSP00000461118.2:n.21-95_21-60del
ENST00000673669.1:c.21-95_21-60del (CTNS)	ENSP00000501123.1:n.21-95_21-60del
ENST00000673965.1:c.462-95_462-60del (CTNS)	ENSP00000500995.1:n.462-95_462-60del
ENST00000046640.7:c.462-95_462-60del (CTNS)	ENSP00000046640.3:n.462-95_462-60del
ENST00000381870.7:c.462-95_462-60del (CTNS)	ENSP00000371294.3:n.462-95_462-60del
ENST00000574218.1:c.21-95_21-60del (CTNS)	ENSP00000458912.1:n.21-95_21-60del
ENST00000574776.5:c.21-95_21-60del (CTNS)	ENSP00000461118.1:n.21-95_21-60del
ENST00000576979.1:c.462-95_462-60del (CTNS)	ENSP00000458457.1:n.462-95_462-60del
NM_001031681.2:c.462-95_462-60del (CTNS)	NP_001026851.2:n.462-95_462-60del
NM_004937.2:c.462-95_462-60del (CTNS)	NP_004928.2:n.462-95_462-60del
XM_005256485.1:c.462-95_462-60del (CTNS)	XP_005256542.1:n.462-95_462-60del
XM_006721463.1:c.462-95_462-60del (CTNS)	XP_006721526.1:n.462-95_462-60del
XM_006721464.1:c.21-95_21-60del (CTNS)	XP_006721527.1:n.21-95_21-60del
XM_011523691.1:c.462-95_462-60del (CTNS)	XP_011521993.1:n.462-95_462-60del
XM_011523692.1:c.21-95_21-60del (CTNS)	XP_011521994.1:n.21-95_21-60del
XR_934003.1:n.1055-95_1055-60del (CTNS)
XR_934158.1:n.1143+473_1143+508del (CTNS-AS1)
XR_934159.1:n.433+473_433+508del (CTNS-AS1)
XR_934160.1:n.438+473_438+508del (CTNS-AS1)
XR_934161.1:n.434-421_434-386del (CTNS-AS1)
XR_934162.1:n.439-421_439-386del (CTNS-AS1)
XR_934163.1:n.1034+473_1034+508del (CTNS-AS1)
XM_005256485.3:c.462-95_462-60del (CTNS)	XP_005256542.1:n.462-95_462-60del
XM_006721463.3:c.462-95_462-60del (CTNS)	XP_006721526.1:n.462-95_462-60del
XM_006721464.2:c.21-95_21-60del (CTNS)	XP_006721527.1:n.21-95_21-60del
XM_011523691.2:c.462-95_462-60del (CTNS)	XP_011521993.1:n.462-95_462-60del
XM_011523692.2:c.21-95_21-60del (CTNS)	XP_011521994.1:n.21-95_21-60del
XM_017024254.1:c.21-95_21-60del (CTNS)	XP_016879743.1:n.21-95_21-60del
XM_017024255.1:c.21-95_21-60del (CTNS)	XP_016879744.1:n.21-95_21-60del
XM_017024256.1:c.21-95_21-60del (CTNS)	XP_016879745.1:n.21-95_21-60del
XM_017024257.1:c.21-95_21-60del (CTNS)	XP_016879746.1:n.21-95_21-60del
XM_017024258.1:c.21-95_21-60del (CTNS)	XP_016879747.1:n.21-95_21-60del
XR_934158.2:n.1160+473_1160+508del (CTNS-AS1)
XR_934159.2:n.450+473_450+508del (CTNS-AS1)
XR_934160.2:n.455+473_455+508del (CTNS-AS1)
XR_934161.2:n.451-421_451-386del (CTNS-AS1)
XR_934162.3:n.456-421_456-386del (CTNS-AS1)
XR_934163.2:n.1051+473_1051+508del (CTNS-AS1)
NM_001374492.1:c.462-95_462-60del (CTNS)	NP_001361421.1:n.462-95_462-60del
NM_001374493.1:c.21-95_21-60del (CTNS)	NP_001361422.1:n.21-95_21-60del
NM_001374494.1:c.21-95_21-60del (CTNS)	NP_001361423.1:n.21-95_21-60del
NM_001374495.1:c.21-95_21-60del (CTNS)	NP_001361424.1:n.21-95_21-60del
NM_001374496.1:c.21-95_21-60del (CTNS)	NP_001361425.1:n.21-95_21-60del
NM_004937.3:c.462-95_462-60del (CTNS) MANE Select	NP_004928.2:n.462-95_462-60del
NM_001031681.3:c.462-95_462-60del (CTNS)	NP_001026851.2:n.462-95_462-60del