Canonical Allele Identifier: CA10639478

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322876
• ClinVar RCV Id: RCV000261154 ; RCV000369727
• dbSNP Id: rs772764926
• gnomAD v4: 17-3661414-A-AGG
• MyVariant Identifiers: chr17:g.3564709_3564710dupGG (hg19) ; chr17:g.3564710_3564711insGG (hg19) ; chr17:g.3564708_3564709insGG (hg19) ; chr17:g.3661415_3661416dupGG (hg38) ; chr17:g.3661416_3661417insGG (hg38) ; chr17:g.3661414_3661415insGG (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3661415_3661416dup , CM000679.2:g.3661415_3661416dup	GRCh38
NC_000017.10:g.3564709_3564710dup , CM000679.1:g.3564709_3564710dup	GRCh37
NC_000017.9:g.3511458_3511459dup	NCBI36
NG_012489.1:g.29948_29949dup
NG_053154.1:g.12264_12265dup
NG_012489.2:g.29948_29949dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.*1046_*1047dup MANE Select	ENSP00000046640.4:n.*1046_*1047dup
ENST00000381870.8:c.*681_*682dup	ENSP00000371294.3:n.*681_*682dup
ENST00000673669.1:c.*1046_*1047dup	ENSP00000501123.1:n.*1046_*1047dup
ENST00000673965.1:c.*1046_*1047dup	ENSP00000500995.1:n.*1046_*1047dup
ENST00000046640.7:c.*1046_*1047dup	ENSP00000046640.3:n.*1046_*1047dup
ENST00000381870.7:c.*681_*682dup	ENSP00000371294.3:n.*681_*682dup
NM_001031681.2:c.*681_*682dup	NP_001026851.2:n.*681_*682dup
NM_004937.2:c.*1046_*1047dup	NP_004928.2:n.*1046_*1047dup
XM_005256485.1:c.*681_*682dup	XP_005256542.1:n.*681_*682dup
XM_006721463.1:c.*681_*682dup	XP_006721526.1:n.*681_*682dup
XM_006721464.1:c.*681_*682dup	XP_006721527.1:n.*681_*682dup
XM_011523691.1:c.*681_*682dup	XP_011521993.1:n.*681_*682dup
XM_011523692.1:c.*681_*682dup	XP_011521994.1:n.*681_*682dup
XM_005256485.3:c.*681_*682dup	XP_005256542.1:n.*681_*682dup
XM_006721463.3:c.*681_*682dup	XP_006721526.1:n.*681_*682dup
XM_006721464.2:c.*681_*682dup	XP_006721527.1:n.*681_*682dup
XM_011523691.2:c.*681_*682dup	XP_011521993.1:n.*681_*682dup
XM_011523692.2:c.*681_*682dup	XP_011521994.1:n.*681_*682dup
XM_017024254.1:c.*681_*682dup	XP_016879743.1:n.*681_*682dup
XM_017024255.1:c.*1046_*1047dup	XP_016879744.1:n.*1046_*1047dup
XM_017024256.1:c.*1046_*1047dup	XP_016879745.1:n.*1046_*1047dup
XM_017024257.1:c.*1046_*1047dup	XP_016879746.1:n.*1046_*1047dup
XM_017024258.1:c.*1046_*1047dup	XP_016879747.1:n.*1046_*1047dup
NM_001374492.1:c.*681_*682dup	NP_001361421.1:n.*681_*682dup
NM_001374493.1:c.*1046_*1047dup	NP_001361422.1:n.*1046_*1047dup
NM_001374494.1:c.*1046_*1047dup	NP_001361423.1:n.*1046_*1047dup
NM_001374495.1:c.*1046_*1047dup	NP_001361424.1:n.*1046_*1047dup
NM_001374496.1:c.*1046_*1047dup	NP_001361425.1:n.*1046_*1047dup
NM_004937.3:c.*1046_*1047dup MANE Select	NP_004928.2:n.*1046_*1047dup
NM_001031681.3:c.*681_*682dup	NP_001026851.2:n.*681_*682dup