Canonical Allele Identifier: CA2633932320
Gene: CDH1 HGNC NCBI

Linked Data

gnomAD v4: 16-68833396-AC-A
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833397del , CM000678.2:g.68833397del GRCh38
NC_000016.9:g.68867300del , CM000678.1:g.68867300del GRCh37
NC_000016.8:g.67424801del NCBI36
NG_008021.1:g.101106del , LRG_301:g.101106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2547del MANE Select ENSP00000261769.4:p.Ser850ProfsTer13
ENST00000261769.9:c.2547del ENSP00000261769.4:p.Ser850ProfsTer13
ENST00000422392.6:c.2364del ENSP00000414946.2:p.Ser789ProfsTer13
ENST00000562118.1:n.765del
ENST00000562836.5:n.2618del
ENST00000566510.5:c.*1213del ENSP00000458139.1:n.*1213del
ENST00000566612.5:c.*787del ENSP00000454782.1:n.*787del
ENST00000611625.4:c.2610del ENSP00000481063.1:p.Ser871ProfsTer13
ENST00000612417.4:c.1854-794del ENSP00000478360.1:n.1854-794del
ENST00000621016.4:c.1866-806del ENSP00000480664.1:n.1866-806del
NM_004360.3:c.2547del , LRG_301t1:c.2547del NP_004351.1:p.Ser850ProfsTer13
XM_011523488.1:c.1812del XP_011521790.1:p.Ser605ProfsTer13
XM_011523489.1:c.1812del XP_011521791.1:p.Ser605ProfsTer13
NM_001317184.1:c.2364del NP_001304113.1:p.Ser789ProfsTer13
NM_001317185.1:c.999del NP_001304114.1:p.Ser334ProfsTer13
NM_001317186.1:c.582del NP_001304115.1:p.Ser195ProfsTer13
NM_004360.4:c.2547del NP_004351.1:p.Ser850ProfsTer13
NM_004360.5:c.2547del MANE Select NP_004351.1:p.Ser850ProfsTer13
NM_001317184.2:c.2364del NP_001304113.1:p.Ser789ProfsTer13
NM_001317185.2:c.999del NP_001304114.1:p.Ser334ProfsTer13
NM_001317186.2:c.582del NP_001304115.1:p.Ser195ProfsTer13
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