Canonical Allele Identifier: CA2669041565

Gene: CLDN16

Linked Data

• gnomAD v4: 3-190404910-CA-C

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190404911del , CM000665.2:g.190404911del	GRCh38
NC_000003.11:g.190122700del , CM000665.1:g.190122700del	GRCh37
NC_000003.10:g.191605394del	NCBI36
NG_008149.1:g.21860del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.367del MANE Select	ENSP00000264734.3:p.Thr123ArgfsTer3
ENST00000456423.2:c.115-4992del	ENSP00000414136.2:n.115-4992del
ENST00000264734.2:c.577del	ENSP00000264734.2:p.Thr193ArgfsTer3
ENST00000456423.1:c.325-4992del	ENSP00000414136.1:n.325-4992del
ENST00000468220.1:n.559del
NM_006580.3:c.577del	NP_006571.1:p.Thr193ArgfsTer3
NM_001378492.1:c.367del	NP_001365421.1:p.Thr123ArgfsTer3
NM_001378493.1:c.367del	NP_001365422.1:p.Thr123ArgfsTer3
NM_006580.4:c.367del MANE Select	NP_006571.2:p.Thr123ArgfsTer3