Canonical Allele Identifier: CA915949329
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 821190
ClinVar RCV Id: RCV001015363 RCV001174971 RCV003229611
dbSNP Id: rs1375617541
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829744del , CM000678.2:g.68829744del GRCh38
NC_000016.9:g.68863647del , CM000678.1:g.68863647del GRCh37
NC_000016.8:g.67421148del NCBI36
NG_008021.1:g.97453del , LRG_301:g.97453del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2386del MANE Select ENSP00000261769.4:p.Arg796GlyfsTer20
ENST00000261769.9:c.2386del ENSP00000261769.4:p.Arg796GlyfsTer20
ENST00000422392.6:c.2203del ENSP00000414946.2:p.Arg735GlyfsTer20
ENST00000562118.1:n.604del
ENST00000562836.5:n.2457del
ENST00000566510.5:c.*1052del ENSP00000458139.1:n.*1052del
ENST00000566612.5:c.*626del ENSP00000454782.1:n.*626del
ENST00000611625.4:c.2449del ENSP00000481063.1:p.Arg817GlyfsTer20
ENST00000612417.4:c.1853+3190del ENSP00000478360.1:n.1853+3190del
ENST00000621016.4:c.1866-4459del ENSP00000480664.1:n.1866-4459del
NM_004360.3:c.2386del , LRG_301t1:c.2386del NP_004351.1:p.Arg796GlyfsTer20
XM_011523488.1:c.1651del XP_011521790.1:p.Arg551GlyfsTer20
XM_011523489.1:c.1651del XP_011521791.1:p.Arg551GlyfsTer20
NM_001317184.1:c.2203del NP_001304113.1:p.Arg735GlyfsTer20
NM_001317185.1:c.838del NP_001304114.1:p.Arg280GlyfsTer20
NM_001317186.1:c.421del NP_001304115.1:p.Arg141GlyfsTer20
NM_004360.4:c.2386del NP_004351.1:p.Arg796GlyfsTer20
NM_004360.5:c.2386del MANE Select NP_004351.1:p.Arg796GlyfsTer20
NM_001317184.2:c.2203del NP_001304113.1:p.Arg735GlyfsTer20
NM_001317185.2:c.838del NP_001304114.1:p.Arg280GlyfsTer20
NM_001317186.2:c.421del NP_001304115.1:p.Arg141GlyfsTer20
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