Canonical Allele Identifier: CA2582342534
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2583559
ClinVar RCV Id: RCV003334481

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68823417dup , CM000678.2:g.68823417dup GRCh38
NC_000016.9:g.68857320dup , CM000678.1:g.68857320dup GRCh37
NC_000016.8:g.67414821dup NCBI36
NG_008021.1:g.91126dup , LRG_301:g.91126dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1955dup MANE Select ENSP00000261769.4:p.Leu652PhefsTer11
ENST00000261769.9:c.1955dup ENSP00000261769.4:p.Leu652PhefsTer11
ENST00000422392.6:c.1772dup ENSP00000414946.2:p.Leu591PhefsTer11
ENST00000562118.1:n.173dup
ENST00000562836.5:n.2026dup
ENST00000566510.5:c.*621dup ENSP00000458139.1:n.*621dup
ENST00000566612.5:c.*195dup ENSP00000454782.1:n.*195dup
ENST00000611625.4:c.2018dup ENSP00000481063.1:p.Leu673PhefsTer11
ENST00000612417.4:c.1830+1298dup ENSP00000478360.1:n.1830+1298dup
ENST00000621016.4:c.1865+1263dup ENSP00000480664.1:n.1865+1263dup
NM_004360.3:c.1955dup , LRG_301t1:c.1955dup NP_004351.1:p.Leu652PhefsTer11
XM_011523488.1:c.1220dup XP_011521790.1:p.Leu407PhefsTer11
XM_011523489.1:c.1220dup XP_011521791.1:p.Leu407PhefsTer11
NM_001317184.1:c.1772dup NP_001304113.1:p.Leu591PhefsTer11
NM_001317185.1:c.407dup NP_001304114.1:p.Leu136PhefsTer11
NM_001317186.1:c.-11dup NP_001304115.1:n.-11dup
NM_004360.4:c.1955dup NP_004351.1:p.Leu652PhefsTer11
NM_004360.5:c.1955dup MANE Select NP_004351.1:p.Leu652PhefsTer11
NM_001317184.2:c.1772dup NP_001304113.1:p.Leu591PhefsTer11
NM_001317185.2:c.407dup NP_001304114.1:p.Leu136PhefsTer11
NM_001317186.2:c.-11dup NP_001304115.1:n.-11dup