Canonical Allele Identifier: CA2229915579
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68737542_68737544delinsCCG , CM000678.2:g.68737542_68737544delinsCCG GRCh38
NC_000016.9:g.68771445_68771447delinsCCG , CM000678.1:g.68771445_68771447delinsCCG GRCh37
NC_000016.8:g.67328946_67328948delinsCCG NCBI36
NG_008021.1:g.5251_5253delinsCCG , LRG_301:g.5251_5253delinsCCG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.48+79_48+81delinsCCG MANE Select ENSP00000261769.4:n.48+79_48+81delinsCCG
ENST00000261769.9:c.48+79_48+81delinsCCG ENSP00000261769.4:n.48+79_48+81delinsCCG
ENST00000422392.6:c.48+79_48+81delinsCCG ENSP00000414946.2:n.48+79_48+81delinsCCG
ENST00000566510.5:c.48+79_48+81delinsCCG ENSP00000458139.1:n.48+79_48+81delinsCCG
ENST00000566612.5:c.48+79_48+81delinsCCG ENSP00000454782.1:n.48+79_48+81delinsCCG
ENST00000611625.4:c.48+79_48+81delinsCCG ENSP00000481063.1:n.48+79_48+81delinsCCG
ENST00000612417.4:c.48+79_48+81delinsCCG ENSP00000478360.1:n.48+79_48+81delinsCCG
ENST00000621016.4:c.48+79_48+81delinsCCG ENSP00000480664.1:n.48+79_48+81delinsCCG
NM_004360.3:c.48+79_48+81delinsCCG , LRG_301t1:c.48+79_48+81delinsCCG NP_004351.1:n.48+79_48+81delinsCCG
NM_001317184.1:c.48+79_48+81delinsCCG NP_001304113.1:n.48+79_48+81delinsCCG
NM_001317185.1:c.-1568+79_-1568+81delinsCCG NP_001304114.1:n.-1568+79_-1568+81delinsCCG
NM_001317186.1:c.-1772+79_-1772+81delinsCCG NP_001304115.1:n.-1772+79_-1772+81delinsCCG
NM_004360.4:c.48+79_48+81delinsCCG NP_004351.1:n.48+79_48+81delinsCCG
NM_004360.5:c.48+79_48+81delinsCCG MANE Select NP_004351.1:n.48+79_48+81delinsCCG
NM_001317184.2:c.48+79_48+81delinsCCG NP_001304113.1:n.48+79_48+81delinsCCG
NM_001317185.2:c.-1568+79_-1568+81delinsCCG NP_001304114.1:n.-1568+79_-1568+81delinsCCG
NM_001317186.2:c.-1772+79_-1772+81delinsCCG NP_001304115.1:n.-1772+79_-1772+81delinsCCG