Canonical Allele Identifier: CA2580091933
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808763_68808764del , CM000678.2:g.68808763_68808764del GRCh38
NC_000016.9:g.68842666_68842667del , CM000678.1:g.68842666_68842667del GRCh37
NC_000016.8:g.67400167_67400168del NCBI36
NG_008021.1:g.76472_76473del , LRG_301:g.76472_76473del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.602_603del MANE Select ENSP00000261769.4:p.Pro201ArgfsTer7
ENST00000261769.9:c.602_603del ENSP00000261769.4:p.Pro201ArgfsTer7
ENST00000422392.6:c.602_603del ENSP00000414946.2:p.Pro201ArgfsTer7
ENST00000561751.1:c.369_370del
ENST00000562836.5:n.673_674del
ENST00000564676.5:n.884_885del
ENST00000566510.5:c.531+196_531+197del ENSP00000458139.1:n.531+196_531+197del
ENST00000566612.5:c.602_603del ENSP00000454782.1:p.Pro201ArgfsTer7
ENST00000567320.1:n.112_113del
ENST00000611625.4:c.602_603del ENSP00000481063.1:p.Pro201ArgfsTer7
ENST00000612417.4:c.602_603del ENSP00000478360.1:p.Pro201ArgfsTer7
ENST00000621016.4:c.602_603del ENSP00000480664.1:p.Pro201ArgfsTer7
NM_004360.3:c.602_603del , LRG_301t1:c.602_603del NP_004351.1:p.Pro201ArgfsTer7
XM_011523488.1:c.-134_-133del XP_011521790.1:n.-134_-133del
XM_011523489.1:c.-134_-133del XP_011521791.1:n.-134_-133del
NM_001317184.1:c.602_603del NP_001304113.1:p.Pro201ArgfsTer7
NM_001317185.1:c.-1014_-1013del NP_001304114.1:n.-1014_-1013del
NM_001317186.1:c.-1218_-1217del NP_001304115.1:n.-1218_-1217del
NM_004360.4:c.602_603del NP_004351.1:p.Pro201ArgfsTer7
NM_004360.5:c.602_603del MANE Select NP_004351.1:p.Pro201ArgfsTer7
NM_001317184.2:c.602_603del NP_001304113.1:p.Pro201ArgfsTer7
NM_001317185.2:c.-1014_-1013del NP_001304114.1:n.-1014_-1013del
NM_001317186.2:c.-1218_-1217del NP_001304115.1:n.-1218_-1217del