Canonical Allele Identifier: CA10649984

Gene: CTNS

Linked Data

• ClinVar Variation Id: 322904
• ClinVar RCV Id: RCV000289679 ; RCV000347009
• dbSNP Id: rs397856854
• gnomAD v2: 17-3565605-C-CA
• gnomAD v3: 17-3662311-C-CA
• gnomAD v4: 17-3662311-C-CA
• MyVariant Identifiers: chr17:g.3565620dupA (hg19) ; chr17:g.3565607_3565608insA (hg19) ; chr17:g.3565605_3565606insA (hg19) ; chr17:g.3662326dupA (hg38) ; chr17:g.3662313_3662314insA (hg38) ; chr17:g.3662311_3662312insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.3662326dup , CM000679.2:g.3662326dup	GRCh38
NC_000017.10:g.3565620dup , CM000679.1:g.3565620dup	GRCh37
NC_000017.9:g.3512369dup	NCBI36
NG_012489.1:g.30859dup
NG_053154.1:g.11368dup
NG_012489.2:g.30859dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000046640.9:c.*1957dup MANE Select	ENSP00000046640.4:n.*1957dup
NM_001031681.2:c.*1592dup	NP_001026851.2:n.*1592dup
NM_004937.2:c.*1957dup	NP_004928.2:n.*1957dup
NM_001374492.1:c.*1592dup	NP_001361421.1:n.*1592dup
NM_001374493.1:c.*1957dup	NP_001361422.1:n.*1957dup
NM_001374494.1:c.*1957dup	NP_001361423.1:n.*1957dup
NM_001374495.1:c.*1957dup	NP_001361424.1:n.*1957dup
NM_001374496.1:c.*1957dup	NP_001361425.1:n.*1957dup
NM_004937.3:c.*1957dup MANE Select	NP_004928.2:n.*1957dup
NM_001031681.3:c.*1592dup	NP_001026851.2:n.*1592dup