Canonical Allele Identifier: CA658658499
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 481178
dbSNP Id: rs1555518221

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833324dup , CM000678.2:g.68833324dup GRCh38
NC_000016.9:g.68867227dup , CM000678.1:g.68867227dup GRCh37
NC_000016.8:g.67424728dup NCBI36
NG_008021.1:g.101033dup , LRG_301:g.101033dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2474dup MANE Select ENSP00000261769.4:p.Pro826AlafsTer3
ENST00000261769.9:c.2474dup ENSP00000261769.4:p.Pro826AlafsTer3
ENST00000422392.6:c.2291dup ENSP00000414946.2:p.Pro765AlafsTer3
ENST00000562118.1:n.692dup
ENST00000562836.5:n.2545dup
ENST00000566510.5:c.*1140dup ENSP00000458139.1:n.*1140dup
ENST00000566612.5:c.*714dup ENSP00000454782.1:n.*714dup
ENST00000611625.4:c.2537dup ENSP00000481063.1:p.Pro847AlafsTer3
ENST00000612417.4:c.1854-867dup ENSP00000478360.1:n.1854-867dup
ENST00000621016.4:c.1866-879dup ENSP00000480664.1:n.1866-879dup
NM_004360.3:c.2474dup , LRG_301t1:c.2474dup NP_004351.1:p.Pro826AlafsTer3
XM_011523488.1:c.1739dup XP_011521790.1:p.Pro581AlafsTer3
XM_011523489.1:c.1739dup XP_011521791.1:p.Pro581AlafsTer3
NM_001317184.1:c.2291dup NP_001304113.1:p.Pro765AlafsTer3
NM_001317185.1:c.926dup NP_001304114.1:p.Pro310AlafsTer3
NM_001317186.1:c.509dup NP_001304115.1:p.Pro171AlafsTer3
NM_004360.4:c.2474dup NP_004351.1:p.Pro826AlafsTer3
NM_004360.5:c.2474dup MANE Select NP_004351.1:p.Pro826AlafsTer3
NM_001317184.2:c.2291dup NP_001304113.1:p.Pro765AlafsTer3
NM_001317185.2:c.926dup NP_001304114.1:p.Pro310AlafsTer3
NM_001317186.2:c.509dup NP_001304115.1:p.Pro171AlafsTer3