Canonical Allele Identifier: CA215125
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

ClinVar Variation Id: 6088
ClinVar RCV Id: RCV000006461
dbSNP Id: rs864309516
gnomAD v4: 3-190322005-CAA-C
MyVariant Identifiers: chr3:g.190039795_190039796del (hg19) chr3:g.190322006_190322007del (hg38)
PubMed: PMID:12164927 PMID:15521008
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322007_190322008del , CM000665.2:g.190322007_190322008del GRCh38
NC_000003.11:g.190039796_190039797del , CM000665.1:g.190039796_190039797del GRCh37
NC_000003.10:g.191522490_191522491del NCBI36
NG_021418.1:g.5440_5441del

Transcript Alleles

HGVS Amino-acid change
ENST00000295522.4:c.200_201del (CLDN1) MANE Select ENSP00000295522.3:p.Phe67Ter
ENST00000295522.3:c.200_201del (CLDN1) ENSP00000295522.3:p.Phe67Ter
NM_021101.4:c.200_201del (CLDN1) NP_066924.1:p.Phe67Ter
NM_021101.5:c.200_201del (CLDN1) MANE Select NP_066924.1:p.Phe67Ter
NM_001378492.1:c.-279+6948_-279+6949del (CLDN16) NP_001365421.1:n.-279+6948_-279+6949del
NM_001378493.1:c.-279+31416_-279+31417del (CLDN16) NP_001365422.1:n.-279+31416_-279+31417del
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