Canonical Allele Identifier: CA658658492
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 481028
ClinVar RCV Id: RCV000569877 RCV003328410
dbSNP Id: rs1555516556
MyVariant Identifiers: chr16:g.68853253del (hg19) chr16:g.68819350del (hg38)
ERepo: CA658658492/MONDO:0007648/007 CA658658492/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819350del , CM000678.2:g.68819350del GRCh38
NC_000016.9:g.68853253del , CM000678.1:g.68853253del GRCh37
NC_000016.8:g.67410754del NCBI36
NG_008021.1:g.87059del , LRG_301:g.87059del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1636del MANE Select ENSP00000261769.4:p.Ala546LeufsTer11
ENST00000261769.9:c.1636del ENSP00000261769.4:p.Ala546LeufsTer11
ENST00000422392.6:c.1453del ENSP00000414946.2:p.Ala485LeufsTer11
ENST00000562836.5:n.1707del
ENST00000566510.5:c.*302del ENSP00000458139.1:n.*302del
ENST00000566612.5:c.1566-2651del ENSP00000454782.1:n.1566-2651del
ENST00000611625.4:c.1699del ENSP00000481063.1:p.Ala567LeufsTer11
ENST00000612417.4:c.1636del ENSP00000478360.1:p.Ala546LeufsTer11
ENST00000621016.4:c.1636del ENSP00000480664.1:p.Ala546LeufsTer11
NM_004360.3:c.1636del , LRG_301t1:c.1636del NP_004351.1:p.Ala546LeufsTer11
XM_011523488.1:c.901del XP_011521790.1:p.Ala301LeufsTer11
XM_011523489.1:c.901del XP_011521791.1:p.Ala301LeufsTer11
NM_001317184.1:c.1453del NP_001304113.1:p.Ala485LeufsTer11
NM_001317185.1:c.88del NP_001304114.1:p.Ala30LeufsTer11
NM_001317186.1:c.-254-2651del NP_001304115.1:n.-254-2651del
NM_004360.4:c.1636del NP_004351.1:p.Ala546LeufsTer11
NM_004360.5:c.1636del MANE Select NP_004351.1:p.Ala546LeufsTer11
NM_001317184.2:c.1453del NP_001304113.1:p.Ala485LeufsTer11
NM_001317185.2:c.88del NP_001304114.1:p.Ala30LeufsTer11
NM_001317186.2:c.-254-2651del NP_001304115.1:n.-254-2651del
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