Canonical Allele Identifier: CA2753709

Gene: CLDN16

Linked Data

• ClinVar Variation Id: 282608
• ClinVar RCV Id: RCV000345256 ; RCV000371570 ; RCV001520212
• dbSNP Id: rs368234054
• ExAC: 3:190106071 AG / A
• gnomAD v2: 3-190106071-AG-A
• gnomAD v3: 3-190388282-AG-A
• gnomAD v4: 3-190388282-AG-A
• COSMIC: COSM1683973 ; COSM1683974
• MyVariant Identifiers: chr3:g.190106074del (hg19) ; chr3:g.190106072del (hg19) ; chr3:g.190388285del (hg38) ; chr3:g.190388283del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190388285del , CM000665.2:g.190388285del	GRCh38
NC_000003.11:g.190106074del , CM000665.1:g.190106074del	GRCh37
NC_000003.10:g.191588768del	NCBI36
NG_008149.1:g.5234del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.-45del MANE Select	ENSP00000264734.3:n.-45del
ENST00000456423.2:c.-45del	ENSP00000414136.2:n.-45del
ENST00000264734.2:c.166del	ENSP00000264734.2:p.Ala56LeufsTer16
ENST00000456423.1:c.166del	ENSP00000414136.1:p.Ala56LeufsTer16
ENST00000468220.1:n.306+13682del
NM_006580.3:c.166del	NP_006571.1:p.Ala56LeufsTer16
NM_001378492.1:c.-45del	NP_001365421.1:n.-45del
NM_001378493.1:c.-45del	NP_001365422.1:n.-45del
NM_006580.4:c.-45del MANE Select	NP_006571.2:n.-45del