Canonical Allele Identifier: CA2697555905
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2699148
ClinVar RCV Id: RCV003512389

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68822094_68822095delinsAG , CM000678.2:g.68822094_68822095delinsAG GRCh38
NC_000016.9:g.68855997_68855998delinsAG , CM000678.1:g.68855997_68855998delinsAG GRCh37
NC_000016.8:g.67413498_67413499delinsAG NCBI36
NG_008021.1:g.89803_89804delinsAG , LRG_301:g.89803_89804delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1805_1806delinsAG MANE Select ENSP00000261769.4:p.Phe602Ter
ENST00000261769.9:c.1805_1806delinsAG ENSP00000261769.4:p.Phe602Ter
ENST00000422392.6:c.1622_1623delinsAG ENSP00000414946.2:p.Phe541Ter
ENST00000562836.5:n.1876_1877delinsAG
ENST00000566510.5:c.*471_*472delinsAG ENSP00000458139.1:n.*471_*472delinsAG
ENST00000566612.5:c.*45_*46delinsAG ENSP00000454782.1:n.*45_*46delinsAG
ENST00000611625.4:c.1868_1869delinsAG ENSP00000481063.1:p.Phe623Ter
ENST00000612417.4:c.1805_1806delinsAG ENSP00000478360.1:p.Phe602Ter
ENST00000621016.4:c.1805_1806delinsAG ENSP00000480664.1:p.Phe602Ter
NM_004360.3:c.1805_1806delinsAG , LRG_301t1:c.1805_1806delinsAG NP_004351.1:p.Phe602Ter
XM_011523488.1:c.1070_1071delinsAG XP_011521790.1:p.Phe357Ter
XM_011523489.1:c.1070_1071delinsAG XP_011521791.1:p.Phe357Ter
NM_001317184.1:c.1622_1623delinsAG NP_001304113.1:p.Phe541Ter
NM_001317185.1:c.257_258delinsAG NP_001304114.1:p.Phe86Ter
NM_001317186.1:c.-161_-160delinsAG NP_001304115.1:n.-161_-160delinsAG
NM_004360.4:c.1805_1806delinsAG NP_004351.1:p.Phe602Ter
NM_004360.5:c.1805_1806delinsAG MANE Select NP_004351.1:p.Phe602Ter
NM_001317184.2:c.1622_1623delinsAG NP_001304113.1:p.Phe541Ter
NM_001317185.2:c.257_258delinsAG NP_001304114.1:p.Phe86Ter
NM_001317186.2:c.-161_-160delinsAG NP_001304115.1:n.-161_-160delinsAG