Canonical Allele Identifier: CA2573051259
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815674del , CM000678.2:g.68815674del GRCh38
NC_000016.9:g.68849577del , CM000678.1:g.68849577del GRCh37
NC_000016.8:g.67407078del NCBI36
NG_008021.1:g.83383del , LRG_301:g.83383del

Transcript Alleles

HGVS Amino-acid change
ENST00000261769.10:c.1480del MANE Select ENSP00000261769.4:p.Glu494LysfsTer28
ENST00000261769.9:c.1480del ENSP00000261769.4:p.Glu494LysfsTer28
ENST00000422392.6:c.1297del ENSP00000414946.2:p.Glu433LysfsTer28
ENST00000562836.5:n.1551del
ENST00000566510.5:c.*146del ENSP00000458139.1:n.*146del
ENST00000566612.5:c.1480del ENSP00000454782.1:p.Glu494LysfsTer28
ENST00000611625.4:c.1543del ENSP00000481063.1:p.Glu515LysfsTer28
ENST00000612417.4:c.1480del ENSP00000478360.1:p.Glu494LysfsTer28
ENST00000621016.4:c.1480del ENSP00000480664.1:p.Glu494LysfsTer28
NM_004360.3:c.1480del , LRG_301t1:c.1480del NP_004351.1:p.Glu494LysfsTer28
XM_011523488.1:c.745del XP_011521790.1:p.Glu249LysfsTer28
XM_011523489.1:c.745del XP_011521791.1:p.Glu249LysfsTer28
NM_001317184.1:c.1297del NP_001304113.1:p.Glu433LysfsTer28
NM_001317185.1:c.-69del NP_001304114.1:n.-69del
NM_001317186.1:c.-340del NP_001304115.1:n.-340del
NM_004360.4:c.1480del NP_004351.1:p.Glu494LysfsTer28
NM_004360.5:c.1480del MANE Select NP_004351.1:p.Glu494LysfsTer28
NM_001317184.2:c.1297del NP_001304113.1:p.Glu433LysfsTer28
NM_001317185.2:c.-69del NP_001304114.1:n.-69del
NM_001317186.2:c.-340del NP_001304115.1:n.-340del