Canonical Allele Identifier: CA2580091956
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1793103
ClinVar RCV Id: RCV002433387
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833410_68833413del , CM000678.2:g.68833410_68833413del GRCh38
NC_000016.9:g.68867313_68867316del , CM000678.1:g.68867313_68867316del GRCh37
NC_000016.8:g.67424814_67424817del NCBI36
NG_008021.1:g.101119_101122del , LRG_301:g.101119_101122del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2560_2563del MANE Select ENSP00000261769.4:p.Asp854LysfsTer8
ENST00000261769.9:c.2560_2563del ENSP00000261769.4:p.Asp854LysfsTer8
ENST00000422392.6:c.2377_2380del ENSP00000414946.2:p.Asp793LysfsTer8
ENST00000562118.1:n.778_781del
ENST00000562836.5:n.2631_2634del
ENST00000566510.5:c.*1226_*1229del ENSP00000458139.1:n.*1226_*1229del
ENST00000566612.5:c.*800_*803del ENSP00000454782.1:n.*800_*803del
ENST00000611625.4:c.2623_2626del ENSP00000481063.1:p.Asp875LysfsTer8
ENST00000612417.4:c.1854-781_1854-778del ENSP00000478360.1:n.1854-781_1854-778del
ENST00000621016.4:c.1866-793_1866-790del ENSP00000480664.1:n.1866-793_1866-790del
NM_004360.3:c.2560_2563del , LRG_301t1:c.2560_2563del NP_004351.1:p.Asp854LysfsTer8
XM_011523488.1:c.1825_1828del XP_011521790.1:p.Asp609LysfsTer8
XM_011523489.1:c.1825_1828del XP_011521791.1:p.Asp609LysfsTer8
NM_001317184.1:c.2377_2380del NP_001304113.1:p.Asp793LysfsTer8
NM_001317185.1:c.1012_1015del NP_001304114.1:p.Asp338LysfsTer8
NM_001317186.1:c.595_598del NP_001304115.1:p.Asp199LysfsTer8
NM_004360.4:c.2560_2563del NP_004351.1:p.Asp854LysfsTer8
NM_004360.5:c.2560_2563del MANE Select NP_004351.1:p.Asp854LysfsTer8
NM_001317184.2:c.2377_2380del NP_001304113.1:p.Asp793LysfsTer8
NM_001317185.2:c.1012_1015del NP_001304114.1:p.Asp338LysfsTer8
NM_001317186.2:c.595_598del NP_001304115.1:p.Asp199LysfsTer8
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