Canonical Allele Identifier: CA191461
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 185252
ClinVar RCV Id: RCV000164640 RCV000376724 RCV000810597 RCV001804893
dbSNP Id: rs786202033
MyVariant Identifiers: chr16:g.68857364del (hg19) chr16:g.68823461del (hg38)
ERepo: CA191461/MONDO:0007648/007 CA191461/MONDO:0100488/007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823461del , CM000678.2:g.68823461del GRCh38
NC_000016.9:g.68857364del , CM000678.1:g.68857364del GRCh37
NC_000016.8:g.67414865del NCBI36
NG_008021.1:g.91170del , LRG_301:g.91170del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1999del MANE Select ENSP00000261769.4:p.Leu667SerfsTer12
ENST00000261769.9:c.1999del ENSP00000261769.4:p.Leu667SerfsTer12
ENST00000422392.6:c.1816del ENSP00000414946.2:p.Leu606SerfsTer12
ENST00000562118.1:n.217del
ENST00000562836.5:n.2070del
ENST00000566510.5:c.*665del ENSP00000458139.1:n.*665del
ENST00000566612.5:c.*239del ENSP00000454782.1:n.*239del
ENST00000611625.4:c.2062del ENSP00000481063.1:p.Leu688SerfsTer12
ENST00000612417.4:c.1830+1342del ENSP00000478360.1:n.1830+1342del
ENST00000621016.4:c.1865+1307del ENSP00000480664.1:n.1865+1307del
NM_004360.3:c.1999del , LRG_301t1:c.1999del NP_004351.1:p.Leu667SerfsTer12
XM_011523488.1:c.1264del XP_011521790.1:p.Leu422SerfsTer12
XM_011523489.1:c.1264del XP_011521791.1:p.Leu422SerfsTer12
NM_001317184.1:c.1816del NP_001304113.1:p.Leu606SerfsTer12
NM_001317185.1:c.451del NP_001304114.1:p.Leu151SerfsTer12
NM_001317186.1:c.34del NP_001304115.1:p.Leu12SerfsTer12
NM_004360.4:c.1999del NP_004351.1:p.Leu667SerfsTer12
NM_004360.5:c.1999del MANE Select NP_004351.1:p.Leu667SerfsTer12
NM_001317184.2:c.1816del NP_001304113.1:p.Leu606SerfsTer12
NM_001317185.2:c.451del NP_001304114.1:p.Leu151SerfsTer12
NM_001317186.2:c.34del NP_001304115.1:p.Leu12SerfsTer12
Search 100 bp 5'
Search 100 bp 3'