Canonical Allele Identifier: CA2580612898
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2567612

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829713_68829714insCAACCCTCATGGT , CM000678.2:g.68829713_68829714insCAACCCTCATGGT GRCh38
NC_000016.9:g.68863616_68863617insCAACCCTCATGGT , CM000678.1:g.68863616_68863617insCAACCCTCATGGT GRCh37
NC_000016.8:g.67421117_67421118insCAACCCTCATGGT NCBI36
NG_008021.1:g.97422_97423insCAACCCTCATGGT , LRG_301:g.97422_97423insCAACCCTCATGGT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2355_2356insCAACCCTCATGGT MANE Select ENSP00000261769.4:p.Asp786GlnfsTer5
ENST00000261769.9:c.2355_2356insCAACCCTCATGGT ENSP00000261769.4:p.Asp786GlnfsTer5
ENST00000422392.6:c.2172_2173insCAACCCTCATGGT ENSP00000414946.2:p.Asp725GlnfsTer5
ENST00000562118.1:n.573_574insCAACCCTCATGGT
ENST00000562836.5:n.2426_2427insCAACCCTCATGGT
ENST00000566510.5:c.*1021_*1022insCAACCCTCATGGT ENSP00000458139.1:n.*1021_*1022insCAACCCTCATGGT
ENST00000566612.5:c.*595_*596insCAACCCTCATGGT ENSP00000454782.1:n.*595_*596insCAACCCTCATGGT
ENST00000611625.4:c.2418_2419insCAACCCTCATGGT ENSP00000481063.1:p.Asp807GlnfsTer5
ENST00000612417.4:c.1853+3159_1853+3160insCAACCCTCATGGT ENSP00000478360.1:n.1853+3159_1853+3160insCAACCCTCATGGT
ENST00000621016.4:c.1866-4490_1866-4489insCAACCCTCATGGT ENSP00000480664.1:n.1866-4490_1866-4489insCAACCCTCATGGT
NM_004360.3:c.2355_2356insCAACCCTCATGGT , LRG_301t1:c.2355_2356insCAACCCTCATGGT NP_004351.1:p.Asp786GlnfsTer5
XM_011523488.1:c.1620_1621insCAACCCTCATGGT XP_011521790.1:p.Asp541GlnfsTer5
XM_011523489.1:c.1620_1621insCAACCCTCATGGT XP_011521791.1:p.Asp541GlnfsTer5
NM_001317184.1:c.2172_2173insCAACCCTCATGGT NP_001304113.1:p.Asp725GlnfsTer5
NM_001317185.1:c.807_808insCAACCCTCATGGT NP_001304114.1:p.Asp270GlnfsTer5
NM_001317186.1:c.390_391insCAACCCTCATGGT NP_001304115.1:p.Asp131GlnfsTer5
NM_004360.4:c.2355_2356insCAACCCTCATGGT NP_004351.1:p.Asp786GlnfsTer5
NM_004360.5:c.2355_2356insCAACCCTCATGGT MANE Select NP_004351.1:p.Asp786GlnfsTer5
NM_001317184.2:c.2172_2173insCAACCCTCATGGT NP_001304113.1:p.Asp725GlnfsTer5
NM_001317185.2:c.807_808insCAACCCTCATGGT NP_001304114.1:p.Asp270GlnfsTer5
NM_001317186.2:c.390_391insCAACCCTCATGGT NP_001304115.1:p.Asp131GlnfsTer5