Canonical Allele Identifier: CA2695197670
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2673912
ClinVar RCV Id: RCV003450527
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833311_68833317del , CM000678.2:g.68833311_68833317del GRCh38
NC_000016.9:g.68867214_68867220del , CM000678.1:g.68867214_68867220del GRCh37
NC_000016.8:g.67424715_67424721del NCBI36
NG_008021.1:g.101020_101026del , LRG_301:g.101020_101026del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2461_2467del MANE Select ENSP00000261769.4:p.Asp821GlnfsTer23
ENST00000261769.9:c.2461_2467del ENSP00000261769.4:p.Asp821GlnfsTer23
ENST00000422392.6:c.2278_2284del ENSP00000414946.2:p.Asp760GlnfsTer23
ENST00000562118.1:n.679_685del
ENST00000562836.5:n.2532_2538del
ENST00000566510.5:c.*1127_*1133del ENSP00000458139.1:n.*1127_*1133del
ENST00000566612.5:c.*701_*707del ENSP00000454782.1:n.*701_*707del
ENST00000611625.4:c.2524_2530del ENSP00000481063.1:p.Asp842GlnfsTer23
ENST00000612417.4:c.1854-880_1854-874del ENSP00000478360.1:n.1854-880_1854-874del
ENST00000621016.4:c.1866-892_1866-886del ENSP00000480664.1:n.1866-892_1866-886del
NM_004360.3:c.2461_2467del , LRG_301t1:c.2461_2467del NP_004351.1:p.Asp821GlnfsTer23
XM_011523488.1:c.1726_1732del XP_011521790.1:p.Asp576GlnfsTer23
XM_011523489.1:c.1726_1732del XP_011521791.1:p.Asp576GlnfsTer23
NM_001317184.1:c.2278_2284del NP_001304113.1:p.Asp760GlnfsTer23
NM_001317185.1:c.913_919del NP_001304114.1:p.Asp305GlnfsTer23
NM_001317186.1:c.496_502del NP_001304115.1:p.Asp166GlnfsTer23
NM_004360.4:c.2461_2467del NP_004351.1:p.Asp821GlnfsTer23
NM_004360.5:c.2461_2467del MANE Select NP_004351.1:p.Asp821GlnfsTer23
NM_001317184.2:c.2278_2284del NP_001304113.1:p.Asp760GlnfsTer23
NM_001317185.2:c.913_919del NP_001304114.1:p.Asp305GlnfsTer23
NM_001317186.2:c.496_502del NP_001304115.1:p.Asp166GlnfsTer23
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