Canonical Allele Identifier: CA548498459

Gene: CLDN16

Linked Data

• dbSNP Id: rs1366909555
• gnomAD v2: 3-190122838-A-AAAAACTAAAGGTCACTTCTACCAGCCCTGCATACTTTAGC
• gnomAD v3: 3-190405049-A-AAAAACTAAAGGTCACTTCTACCAGCCCTGCATACTTTAGC
• gnomAD v4: 3-190405049-A-AAAAACTAAAGGTCACTTCTACCAGCCCTGCATACTTTAGC
• MyVariant Identifiers: chr3:g.190122838_190122839insAAAACTAAAGGTCACTTCTACCAGCCCTGCATACTTTAGC (hg19) ; chr3:g.190405049_190405050insAAAACTAAAGGTCACTTCTACCAGCCCTGCATACTTTAGC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.190405050_190405089dup , CM000665.2:g.190405050_190405089dup	GRCh38
NC_000003.11:g.190122839_190122878dup , CM000665.1:g.190122839_190122878dup	GRCh37
NC_000003.10:g.191605533_191605572dup	NCBI36
NG_008149.1:g.21999_22038dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264734.3:c.382+124_382+163dup MANE Select	ENSP00000264734.3:n.382+124_382+163dup
ENST00000456423.2:c.115-4853_115-4814dup	ENSP00000414136.2:n.115-4853_115-4814dup
ENST00000264734.2:c.592+124_592+163dup	ENSP00000264734.2:n.592+124_592+163dup
ENST00000456423.1:c.325-4853_325-4814dup	ENSP00000414136.1:n.325-4853_325-4814dup
NM_006580.3:c.592+124_592+163dup	NP_006571.1:n.592+124_592+163dup
NM_001378492.1:c.382+124_382+163dup	NP_001365421.1:n.382+124_382+163dup
NM_001378493.1:c.382+124_382+163dup	NP_001365422.1:n.382+124_382+163dup
NM_006580.4:c.382+124_382+163dup MANE Select	NP_006571.2:n.382+124_382+163dup