Canonical Allele Identifier: CA2582342549
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583522
ClinVar RCV Id: RCV003337193

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68810246_68810269delinsGGGC , CM000678.2:g.68810246_68810269delinsGGGC GRCh38
NC_000016.9:g.68844149_68844172delinsGGGC , CM000678.1:g.68844149_68844172delinsGGGC GRCh37
NC_000016.8:g.67401650_67401673delinsGGGC NCBI36
NG_008021.1:g.77955_77978delinsGGGC , LRG_301:g.77955_77978delinsGGGC

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.737_760delinsGGGC MANE Select ENSP00000261769.4:p.Met246ArgfsTer5
ENST00000261769.9:c.737_760delinsGGGC ENSP00000261769.4:p.Met246ArgfsTer5
ENST00000422392.6:c.737_760delinsGGGC ENSP00000414946.2:p.Met246ArgfsTer5
ENST00000561751.1:c.454+1398_455-1415delinsGGGC
ENST00000562836.5:n.808_831delinsGGGC
ENST00000566510.5:c.581_604delinsGGGC ENSP00000458139.1:p.Met194ArgfsTer5
ENST00000566612.5:c.737_760delinsGGGC ENSP00000454782.1:p.Met246ArgfsTer5
ENST00000611625.4:c.737_760delinsGGGC ENSP00000481063.1:p.Met246ArgfsTer5
ENST00000612417.4:c.737_760delinsGGGC ENSP00000478360.1:p.Met246ArgfsTer5
ENST00000621016.4:c.737_760delinsGGGC ENSP00000480664.1:p.Met246ArgfsTer5
NM_004360.3:c.737_760delinsGGGC , LRG_301t1:c.737_760delinsGGGC NP_004351.1:p.Met246ArgfsTer5
XM_011523488.1:c.2_25delinsGGGC XP_011521790.1:p.Met1ArgfsTer5
XM_011523489.1:c.2_25delinsGGGC XP_011521791.1:p.Met1ArgfsTer5
NM_001317184.1:c.737_760delinsGGGC NP_001304113.1:p.Met246ArgfsTer5
NM_001317185.1:c.-879_-856delinsGGGC NP_001304114.1:n.-879_-856delinsGGGC
NM_001317186.1:c.-1083_-1060delinsGGGC NP_001304115.1:n.-1083_-1060delinsGGGC
NM_004360.4:c.737_760delinsGGGC NP_004351.1:p.Met246ArgfsTer5
NM_004360.5:c.737_760delinsGGGC MANE Select NP_004351.1:p.Met246ArgfsTer5
NM_001317184.2:c.737_760delinsGGGC NP_001304113.1:p.Met246ArgfsTer5
NM_001317185.2:c.-879_-856delinsGGGC NP_001304114.1:n.-879_-856delinsGGGC
NM_001317186.2:c.-1083_-1060delinsGGGC NP_001304115.1:n.-1083_-1060delinsGGGC