Canonical Allele Identifier: CA2753676
Gene: CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs767495204
ExAC: 3:190105910 TG / T
gnomAD v2: 3-190105910-TG-T
gnomAD v3: 3-190388121-TG-T
gnomAD v4: 3-190388121-TG-T
MyVariant Identifiers: chr3:g.190105911del (hg19) chr3:g.190388122del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190388122del , CM000665.2:g.190388122del GRCh38
NC_000003.11:g.190105911del , CM000665.1:g.190105911del GRCh37
NC_000003.10:g.191588605del NCBI36
NG_008149.1:g.5071del

Transcript Alleles

HGVS Amino-acid Change
ENST00000456423.2:c.-208del ENSP00000414136.2:n.-208del
ENST00000264734.2:c.3del ENSP00000264734.2:p.Met1IlefsTer27
ENST00000456423.1:c.3del ENSP00000414136.1:p.Met1IlefsTer27
ENST00000468220.1:n.306+13519del
NM_006580.3:c.3del NP_006571.1:p.Met1IlefsTer27
NM_001378492.1:c.-93-115del NP_001365421.1:n.-93-115del
NM_001378493.1:c.-93-115del NP_001365422.1:n.-93-115del
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