Canonical Allele Identifier: CA2573152658
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1352615
ClinVar RCV Id: RCV002039821
dbSNP Id: rs2152142187
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829638_68829650del , CM000678.2:g.68829638_68829650del GRCh38
NC_000016.9:g.68863541_68863553del , CM000678.1:g.68863541_68863553del GRCh37
NC_000016.8:g.67421042_67421054del NCBI36
NG_008021.1:g.97347_97359del , LRG_301:g.97347_97359del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2296-16_2296-4del MANE Select ENSP00000261769.4:n.2296-16_2296-4del
ENST00000261769.9:c.2296-16_2296-4del ENSP00000261769.4:n.2296-16_2296-4del
ENST00000422392.6:c.2113-16_2113-4del ENSP00000414946.2:n.2113-16_2113-4del
ENST00000562118.1:n.514-16_514-4del
ENST00000562836.5:n.2367-16_2367-4del
ENST00000566510.5:c.*962-16_*962-4del ENSP00000458139.1:n.*962-16_*962-4del
ENST00000566612.5:c.*536-16_*536-4del ENSP00000454782.1:n.*536-16_*536-4del
ENST00000611625.4:c.2359-16_2359-4del ENSP00000481063.1:n.2359-16_2359-4del
ENST00000612417.4:c.1853+3084_1853+3096del ENSP00000478360.1:n.1853+3084_1853+3096del
ENST00000621016.4:c.1866-4565_1866-4553del ENSP00000480664.1:n.1866-4565_1866-4553del
NM_004360.3:c.2296-16_2296-4del , LRG_301t1:c.2296-16_2296-4del NP_004351.1:n.2296-16_2296-4del
XM_011523488.1:c.1561-16_1561-4del XP_011521790.1:n.1561-16_1561-4del
XM_011523489.1:c.1561-16_1561-4del XP_011521791.1:n.1561-16_1561-4del
NM_001317184.1:c.2113-16_2113-4del NP_001304113.1:n.2113-16_2113-4del
NM_001317185.1:c.748-16_748-4del NP_001304114.1:n.748-16_748-4del
NM_001317186.1:c.331-16_331-4del NP_001304115.1:n.331-16_331-4del
NM_004360.4:c.2296-16_2296-4del NP_004351.1:n.2296-16_2296-4del
NM_004360.5:c.2296-16_2296-4del MANE Select NP_004351.1:n.2296-16_2296-4del
NM_001317184.2:c.2113-16_2113-4del NP_001304113.1:n.2113-16_2113-4del
NM_001317185.2:c.748-16_748-4del NP_001304114.1:n.748-16_748-4del
NM_001317186.2:c.331-16_331-4del NP_001304115.1:n.331-16_331-4del
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