Canonical Allele Identifier: CA2580612865
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2572091
ClinVar RCV Id: RCV003313829
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68819393_68819394insT , CM000678.2:g.68819393_68819394insT GRCh38
NC_000016.9:g.68853296_68853297insT , CM000678.1:g.68853296_68853297insT GRCh37
NC_000016.8:g.67410797_67410798insT NCBI36
NG_008021.1:g.87102_87103insT , LRG_301:g.87102_87103insT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1679_1680insT MANE Select ENSP00000261769.4:p.Tyr561ValfsTer27
ENST00000261769.9:c.1679_1680insT ENSP00000261769.4:p.Tyr561ValfsTer27
ENST00000422392.6:c.1496_1497insT ENSP00000414946.2:p.Tyr500ValfsTer27
ENST00000562836.5:n.1750_1751insT
ENST00000566510.5:c.*345_*346insT ENSP00000458139.1:n.*345_*346insT
ENST00000566612.5:c.1566-2608_1566-2607insT ENSP00000454782.1:n.1566-2608_1566-2607insT
ENST00000611625.4:c.1742_1743insT ENSP00000481063.1:p.Tyr582ValfsTer27
ENST00000612417.4:c.1679_1680insT ENSP00000478360.1:p.Tyr561ValfsTer27
ENST00000621016.4:c.1679_1680insT ENSP00000480664.1:p.Tyr561ValfsTer27
NM_004360.3:c.1679_1680insT , LRG_301t1:c.1679_1680insT NP_004351.1:p.Tyr561ValfsTer27
XM_011523488.1:c.944_945insT XP_011521790.1:p.Tyr316ValfsTer27
XM_011523489.1:c.944_945insT XP_011521791.1:p.Tyr316ValfsTer27
NM_001317184.1:c.1496_1497insT NP_001304113.1:p.Tyr500ValfsTer27
NM_001317185.1:c.131_132insT NP_001304114.1:p.Tyr45ValfsTer27
NM_001317186.1:c.-254-2608_-254-2607insT NP_001304115.1:n.-254-2608_-254-2607insT
NM_004360.4:c.1679_1680insT NP_004351.1:p.Tyr561ValfsTer27
NM_004360.5:c.1679_1680insT MANE Select NP_004351.1:p.Tyr561ValfsTer27
NM_001317184.2:c.1496_1497insT NP_001304113.1:p.Tyr500ValfsTer27
NM_001317185.2:c.131_132insT NP_001304114.1:p.Tyr45ValfsTer27
NM_001317186.2:c.-254-2608_-254-2607insT NP_001304115.1:n.-254-2608_-254-2607insT
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