Canonical Allele Identifier: CA548798498
Gene: CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs1560093636
gnomAD v2: 3-190105921-A-AC
gnomAD v4: 3-190388132-A-AC
MyVariant Identifiers: chr3:g.190105921_190105922insC (hg19) chr3:g.190388132_190388133insC (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190388136dup , CM000665.2:g.190388136dup GRCh38
NC_000003.11:g.190105925dup , CM000665.1:g.190105925dup GRCh37
NC_000003.10:g.191588619dup NCBI36
NG_008149.1:g.5085dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000456423.2:c.-194dup ENSP00000414136.2:n.-194dup
ENST00000264734.2:c.17dup ENSP00000264734.2:p.Leu7ThrfsTer25
ENST00000456423.1:c.17dup ENSP00000414136.1:p.Leu7ThrfsTer25
ENST00000468220.1:n.306+13533dup
NM_006580.3:c.17dup NP_006571.1:p.Leu7ThrfsTer25
NM_001378492.1:c.-93-101dup NP_001365421.1:n.-93-101dup
NM_001378493.1:c.-93-101dup NP_001365422.1:n.-93-101dup
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