Canonical Allele Identifier: CA658658476
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 463772
ClinVar RCV Id: RCV000532595 RCV003302821 RCV003328399
dbSNP Id: rs1555514429
MyVariant Identifiers: chr16:g.68835670del (hg19) chr16:g.68801767del (hg38)
ERepo: CA658658476/MONDO:0007648/007 CA658658476/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68801767del , CM000678.2:g.68801767del GRCh38
NC_000016.9:g.68835670del , CM000678.1:g.68835670del GRCh37
NC_000016.8:g.67393171del NCBI36
NG_008021.1:g.69476del , LRG_301:g.69476del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.261del MANE Select ENSP00000261769.4:p.Arg87SerfsTer30
ENST00000261769.9:c.261del ENSP00000261769.4:p.Arg87SerfsTer30
ENST00000422392.6:c.261del ENSP00000414946.2:p.Arg87SerfsTer30
ENST00000561751.1:c.28del
ENST00000562836.5:n.332del
ENST00000564676.5:n.543del
ENST00000564745.1:n.256del
ENST00000566510.5:c.261del ENSP00000458139.1:p.Arg87SerfsTer30
ENST00000566612.5:c.261del ENSP00000454782.1:p.Arg87SerfsTer30
ENST00000611625.4:c.261del ENSP00000481063.1:p.Arg87SerfsTer30
ENST00000612417.4:c.261del ENSP00000478360.1:p.Arg87SerfsTer30
ENST00000621016.4:c.261del ENSP00000480664.1:p.Arg87SerfsTer30
NM_004360.3:c.261del , LRG_301t1:c.261del NP_004351.1:p.Arg87SerfsTer30
XM_011523488.1:c.-475del XP_011521790.1:n.-475del
XM_011523489.1:c.-475del XP_011521791.1:n.-475del
NM_001317184.1:c.261del NP_001304113.1:p.Arg87SerfsTer30
NM_001317185.1:c.-1355del NP_001304114.1:n.-1355del
NM_001317186.1:c.-1559del NP_001304115.1:n.-1559del
NM_004360.4:c.261del NP_004351.1:p.Arg87SerfsTer30
NM_004360.5:c.261del MANE Select NP_004351.1:p.Arg87SerfsTer30
NM_001317184.2:c.261del NP_001304113.1:p.Arg87SerfsTer30
NM_001317185.2:c.-1355del NP_001304114.1:n.-1355del
NM_001317186.2:c.-1559del NP_001304115.1:n.-1559del
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