Canonical Allele Identifier: CA2577990676
Gene: CLDN1 HGNC NCBI
CLDN16 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.190322173_190322174insTCTCGCTTCATTCTC , CM000665.2:g.190322173_190322174insTCTCGCTTCATTCTC GRCh38
NC_000003.11:g.190039962_190039963insTCTCGCTTCATTCTC , CM000665.1:g.190039962_190039963insTCTCGCTTCATTCTC GRCh37
NC_000003.10:g.191522656_191522657insTCTCGCTTCATTCTC NCBI36
NG_021418.1:g.5273_5274insGAGAATGAAGCGAGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000295522.4:c.33_34insGAGAATGAAGCGAGA (CLDN1) MANE Select ENSP00000295522.3:p.Phe11_Ile12insGluAsnGluAlaArg
ENST00000295522.3:c.33_34insGAGAATGAAGCGAGA (CLDN1) ENSP00000295522.3:p.Phe11_Ile12insGluAsnGluAlaArg
NM_021101.4:c.33_34insGAGAATGAAGCGAGA (CLDN1) NP_066924.1:p.Phe11_Ile12insGluAsnGluAlaArg
NM_021101.5:c.33_34insGAGAATGAAGCGAGA (CLDN1) MANE Select NP_066924.1:p.Phe11_Ile12insGluAsnGluAlaArg
NM_001378492.1:c.-279+7114_-279+7115insTCTCGCTTCATTCTC (CLDN16) NP_001365421.1:n.-279+7114_-279+7115insTCTCGCTTCATTCTC
NM_001378493.1:c.-279+31582_-279+31583insTCTCGCTTCATTCTC (CLDN16) NP_001365422.1:n.-279+31582_-279+31583insTCTCGCTTCATTCTC