Canonical Allele Identifier: CA2580091870
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2044526
ClinVar RCV Id: RCV002903752

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823379_68823382del , CM000678.2:g.68823379_68823382del GRCh38
NC_000016.9:g.68857282_68857285del , CM000678.1:g.68857282_68857285del GRCh37
NC_000016.8:g.67414783_67414786del NCBI36
NG_008021.1:g.91088_91091del , LRG_301:g.91088_91091del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1937-20_1937-17del MANE Select ENSP00000261769.4:n.1937-20_1937-17del
ENST00000261769.9:c.1937-20_1937-17del ENSP00000261769.4:n.1937-20_1937-17del
ENST00000422392.6:c.1754-20_1754-17del ENSP00000414946.2:n.1754-20_1754-17del
ENST00000562118.1:n.135_138del
ENST00000562836.5:n.2008-20_2008-17del
ENST00000566510.5:c.*603-20_*603-17del ENSP00000458139.1:n.*603-20_*603-17del
ENST00000566612.5:c.*177-20_*177-17del ENSP00000454782.1:n.*177-20_*177-17del
ENST00000611625.4:c.2000-20_2000-17del ENSP00000481063.1:n.2000-20_2000-17del
ENST00000612417.4:c.1830+1260_1830+1263del ENSP00000478360.1:n.1830+1260_1830+1263del
ENST00000621016.4:c.1865+1225_1865+1228del ENSP00000480664.1:n.1865+1225_1865+1228del
NM_004360.3:c.1937-20_1937-17del , LRG_301t1:c.1937-20_1937-17del NP_004351.1:n.1937-20_1937-17del
XM_011523488.1:c.1202-20_1202-17del XP_011521790.1:n.1202-20_1202-17del
XM_011523489.1:c.1202-20_1202-17del XP_011521791.1:n.1202-20_1202-17del
NM_001317184.1:c.1754-20_1754-17del NP_001304113.1:n.1754-20_1754-17del
NM_001317185.1:c.389-20_389-17del NP_001304114.1:n.389-20_389-17del
NM_001317186.1:c.-29-20_-29-17del NP_001304115.1:n.-29-20_-29-17del
NM_004360.4:c.1937-20_1937-17del NP_004351.1:n.1937-20_1937-17del
NM_004360.5:c.1937-20_1937-17del MANE Select NP_004351.1:n.1937-20_1937-17del
NM_001317184.2:c.1754-20_1754-17del NP_001304113.1:n.1754-20_1754-17del
NM_001317185.2:c.389-20_389-17del NP_001304114.1:n.389-20_389-17del
NM_001317186.2:c.-29-20_-29-17del NP_001304115.1:n.-29-20_-29-17del