Canonical Allele Identifier: CA2669052804

Gene: CLDN1 CLDN16

Linked Data

• gnomAD v4: 3-190310197-A-AGAATTCTT

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190310201_190310208dup , CM000665.2:g.190310201_190310208dup	GRCh38
NC_000003.11:g.190027990_190027997dup , CM000665.1:g.190027990_190027997dup	GRCh37
NC_000003.10:g.191510684_191510691dup	NCBI36
NG_021418.1:g.17242_17249dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000295522.4:c.437_444dup (CLDN1) MANE Select	ENSP00000295522.3:p.Tyr149LysfsTer7
ENST00000295522.3:c.437_444dup (CLDN1)	ENSP00000295522.3:p.Tyr149LysfsTer7
ENST00000490800.1:n.396_403dup (CLDN1)
NM_021101.4:c.437_444dup (CLDN1)	NP_066924.1:p.Tyr149LysfsTer7
XR_001741069.1:n.203-4692_203-4685dup
NM_021101.5:c.437_444dup (CLDN1) MANE Select	NP_066924.1:p.Tyr149LysfsTer7
NM_001378492.1:c.-445-4692_-445-4685dup (CLDN16)	NP_001365421.1:n.-445-4692_-445-4685dup
NM_001378493.1:c.-279+19610_-279+19617dup (CLDN16)	NP_001365422.1:n.-279+19610_-279+19617dup