Canonical Allele Identifier: CA1139658389
Gene: CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 983144
ClinVar RCV Id: RCV001263013
dbSNP Id: rs1719051110

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190404825_190404826insTGGT , CM000665.2:g.190404825_190404826insTGGT GRCh38
NC_000003.11:g.190122614_190122615insTGGT , CM000665.1:g.190122614_190122615insTGGT GRCh37
NC_000003.10:g.191605308_191605309insTGGT NCBI36
NG_008149.1:g.21774_21775insTGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000264734.3:c.281_282insTGGT MANE Select ENSP00000264734.3:p.Thr95GlyfsTer8
ENST00000456423.2:c.115-5078_115-5077insTGGT ENSP00000414136.2:n.115-5078_115-5077insTGGT
ENST00000264734.2:c.491_492insTGGT ENSP00000264734.2:p.Thr165GlyfsTer8
ENST00000456423.1:c.325-5078_325-5077insTGGT ENSP00000414136.1:n.325-5078_325-5077insTGGT
ENST00000468220.1:n.473_474insTGGT
NM_006580.3:c.491_492insTGGT NP_006571.1:p.Thr165GlyfsTer8
NM_001378492.1:c.281_282insTGGT NP_001365421.1:p.Thr95GlyfsTer8
NM_001378493.1:c.281_282insTGGT NP_001365422.1:p.Thr95GlyfsTer8
NM_006580.4:c.281_282insTGGT MANE Select NP_006571.2:p.Thr95GlyfsTer8