Canonical Allele Identifier: CA916081846
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 855718
ClinVar RCV Id: RCV001061042
dbSNP Id: rs1961431691
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829747dup , CM000678.2:g.68829747dup GRCh38
NC_000016.9:g.68863650dup , CM000678.1:g.68863650dup GRCh37
NC_000016.8:g.67421151dup NCBI36
NG_008021.1:g.97456dup , LRG_301:g.97456dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2389dup MANE Select ENSP00000261769.4:p.Tyr797LeufsTer10
ENST00000261769.9:c.2389dup ENSP00000261769.4:p.Tyr797LeufsTer10
ENST00000422392.6:c.2206dup ENSP00000414946.2:p.Tyr736LeufsTer10
ENST00000562118.1:n.607dup
ENST00000562836.5:n.2460dup
ENST00000566510.5:c.*1055dup ENSP00000458139.1:n.*1055dup
ENST00000566612.5:c.*629dup ENSP00000454782.1:n.*629dup
ENST00000611625.4:c.2452dup ENSP00000481063.1:p.Tyr818LeufsTer10
ENST00000612417.4:c.1853+3193dup ENSP00000478360.1:n.1853+3193dup
ENST00000621016.4:c.1866-4456dup ENSP00000480664.1:n.1866-4456dup
NM_004360.3:c.2389dup , LRG_301t1:c.2389dup NP_004351.1:p.Tyr797LeufsTer10
XM_011523488.1:c.1654dup XP_011521790.1:p.Tyr552LeufsTer10
XM_011523489.1:c.1654dup XP_011521791.1:p.Tyr552LeufsTer10
NM_001317184.1:c.2206dup NP_001304113.1:p.Tyr736LeufsTer10
NM_001317185.1:c.841dup NP_001304114.1:p.Tyr281LeufsTer10
NM_001317186.1:c.424dup NP_001304115.1:p.Tyr142LeufsTer10
NM_004360.4:c.2389dup NP_004351.1:p.Tyr797LeufsTer10
NM_004360.5:c.2389dup MANE Select NP_004351.1:p.Tyr797LeufsTer10
NM_001317184.2:c.2206dup NP_001304113.1:p.Tyr736LeufsTer10
NM_001317185.2:c.841dup NP_001304114.1:p.Tyr281LeufsTer10
NM_001317186.2:c.424dup NP_001304115.1:p.Tyr142LeufsTer10
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