Canonical Allele Identifier: CA548798462
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Linked Data

dbSNP Id: rs1327391158
gnomAD v2: 3-190039979-AG-A
gnomAD v3: 3-190322190-AG-A
gnomAD v4: 3-190322190-AG-A
MyVariant Identifiers: chr3:g.190039980del (hg19) chr3:g.190322191del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322191del , CM000665.2:g.190322191del GRCh38
NC_000003.11:g.190039980del , CM000665.1:g.190039980del GRCh37
NC_000003.10:g.191522674del NCBI36
NG_021418.1:g.5256del

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.16del (CLDN1) MANE Select ENSP00000295522.3:p.Leu6CysfsTer?
ENST00000295522.3:c.16del (CLDN1) ENSP00000295522.3:p.Leu6CysfsTer?
NM_021101.4:c.16del (CLDN1) NP_066924.1:p.Leu6CysfsTer?
NM_021101.5:c.16del (CLDN1) MANE Select NP_066924.1:p.Leu6CysfsTer?
NM_001378492.1:c.-279+7132del (CLDN16) NP_001365421.1:n.-279+7132del
NM_001378493.1:c.-279+31600del (CLDN16) NP_001365422.1:n.-279+31600del
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