Canonical Allele Identifier: CA728465761

Gene: CTNS

Linked Data

• dbSNP Id: rs1437136206
• gnomAD v4: 17-3636681-G-GC
• MyVariant Identifiers: chr17:g.3539975_3539976insC (hg19) ; chr17:g.3636681_3636682insC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3636685dup , CM000679.2:g.3636685dup	GRCh38
NC_000017.10:g.3539979dup , CM000679.1:g.3539979dup	GRCh37
NC_000017.9:g.3486728dup	NCBI36
NG_012489.1:g.5218dup
NG_052852.1:g.4641dup
NG_012489.2:g.5218dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381870.8:c.-253dup	ENSP00000371294.3:n.-253dup
ENST00000673965.1:c.-248dup	ENSP00000500995.1:n.-248dup
ENST00000046640.7:c.-376dup	ENSP00000046640.3:n.-376dup
ENST00000381870.7:c.-253dup	ENSP00000371294.3:n.-253dup
NM_001031681.2:c.-253dup	NP_001026851.2:n.-253dup
NM_004937.2:c.-376dup	NP_004928.2:n.-376dup
XM_005256485.1:c.-376dup	XP_005256542.1:n.-376dup
XM_006721463.1:c.-248dup	XP_006721526.1:n.-248dup
XM_006721464.1:c.-732dup	XP_006721527.1:n.-732dup
XM_011523692.1:c.-737dup	XP_011521994.1:n.-737dup
XR_934003.1:n.218dup
XM_005256485.3:c.-376dup	XP_005256542.1:n.-376dup
XM_006721463.3:c.-248dup	XP_006721526.1:n.-248dup
XM_006721464.2:c.-732dup	XP_006721527.1:n.-732dup
XM_011523692.2:c.-737dup	XP_011521994.1:n.-737dup
XM_017024254.1:c.-653dup	XP_016879743.1:n.-653dup
XM_017024255.1:c.-732dup	XP_016879744.1:n.-732dup
XM_017024256.1:c.-737dup	XP_016879745.1:n.-737dup
XM_017024257.1:c.-653dup	XP_016879746.1:n.-653dup
XM_017024258.1:c.-652dup	XP_016879747.1:n.-652dup
NM_001031681.3:c.-253dup	NP_001026851.2:n.-253dup