Canonical Allele Identifier: CA2573152600

Gene: CDH1

Linked Data

• ClinVar Variation Id: 1352385
• ClinVar RCV Id: RCV002047563
• dbSNP Id: rs2152132139
• gnomAD v4: 16-68811838-C-CA

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.68811839dup , CM000678.2:g.68811839dup	GRCh38
NC_000016.9:g.68845742dup , CM000678.1:g.68845742dup	GRCh37
NC_000016.8:g.67403243dup	NCBI36
NG_008021.1:g.79548dup , LRG_301:g.79548dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000261769.10:c.988dup MANE Select	ENSP00000261769.4:p.Thr330AsnfsTer20
ENST00000261769.9:c.988dup	ENSP00000261769.4:p.Thr330AsnfsTer20
ENST00000422392.6:c.988dup	ENSP00000414946.2:p.Thr330AsnfsTer20
ENST00000561751.1:c.610dup
ENST00000562836.5:n.1059dup
ENST00000566510.5:c.832dup	ENSP00000458139.1:p.Thr278AsnfsTer20
ENST00000566612.5:c.988dup	ENSP00000454782.1:p.Thr330AsnfsTer20
ENST00000611625.4:c.988dup	ENSP00000481063.1:p.Thr330AsnfsTer20
ENST00000612417.4:c.988dup	ENSP00000478360.1:p.Thr330AsnfsTer20
ENST00000621016.4:c.988dup	ENSP00000480664.1:p.Thr330AsnfsTer20
NM_004360.3:c.988dup , LRG_301t1:c.988dup	NP_004351.1:p.Thr330AsnfsTer20
XM_011523488.1:c.253dup	XP_011521790.1:p.Thr85AsnfsTer20
XM_011523489.1:c.253dup	XP_011521791.1:p.Thr85AsnfsTer20
NM_001317184.1:c.988dup	NP_001304113.1:p.Thr330AsnfsTer20
NM_001317185.1:c.-628dup	NP_001304114.1:n.-628dup
NM_001317186.1:c.-832dup	NP_001304115.1:n.-832dup
NM_004360.4:c.988dup	NP_004351.1:p.Thr330AsnfsTer20
NM_004360.5:c.988dup MANE Select	NP_004351.1:p.Thr330AsnfsTer20
NM_001317184.2:c.988dup	NP_001304113.1:p.Thr330AsnfsTer20
NM_001317185.2:c.-628dup	NP_001304114.1:n.-628dup
NM_001317186.2:c.-832dup	NP_001304115.1:n.-832dup