Canonical Allele Identifier: CA2633899387
Gene: CDH1 HGNC NCBI

Linked Data

gnomAD v4: 16-68737596-GGCC-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737597_68737599del , CM000678.2:g.68737597_68737599del GRCh38
NC_000016.9:g.68771500_68771502del , CM000678.1:g.68771500_68771502del GRCh37
NC_000016.8:g.67329001_67329003del NCBI36
NG_008021.1:g.5306_5308del , LRG_301:g.5306_5308del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.48+134_48+136del MANE Select ENSP00000261769.4:n.48+134_48+136del
ENST00000261769.9:c.48+134_48+136del ENSP00000261769.4:n.48+134_48+136del
ENST00000422392.6:c.48+134_48+136del ENSP00000414946.2:n.48+134_48+136del
ENST00000566510.5:c.48+134_48+136del ENSP00000458139.1:n.48+134_48+136del
ENST00000566612.5:c.48+134_48+136del ENSP00000454782.1:n.48+134_48+136del
ENST00000611625.4:c.48+134_48+136del ENSP00000481063.1:n.48+134_48+136del
ENST00000612417.4:c.48+134_48+136del ENSP00000478360.1:n.48+134_48+136del
ENST00000621016.4:c.48+134_48+136del ENSP00000480664.1:n.48+134_48+136del
NM_004360.3:c.48+134_48+136del , LRG_301t1:c.48+134_48+136del NP_004351.1:n.48+134_48+136del
NM_001317184.1:c.48+134_48+136del NP_001304113.1:n.48+134_48+136del
NM_001317185.1:c.-1568+134_-1568+136del NP_001304114.1:n.-1568+134_-1568+136del
NM_001317186.1:c.-1772+134_-1772+136del NP_001304115.1:n.-1772+134_-1772+136del
NM_004360.4:c.48+134_48+136del NP_004351.1:n.48+134_48+136del
NM_004360.5:c.48+134_48+136del MANE Select NP_004351.1:n.48+134_48+136del
NM_001317184.2:c.48+134_48+136del NP_001304113.1:n.48+134_48+136del
NM_001317185.2:c.-1568+134_-1568+136del NP_001304114.1:n.-1568+134_-1568+136del
NM_001317186.2:c.-1772+134_-1772+136del NP_001304115.1:n.-1772+134_-1772+136del
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