Canonical Allele Identifier: CA916081852
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 849990
ClinVar RCV Id: RCV001054061 RCV002429658
dbSNP Id: rs1961538497
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833379_68833380delinsAG , CM000678.2:g.68833379_68833380delinsAG GRCh38
NC_000016.9:g.68867282_68867283delinsAG , CM000678.1:g.68867282_68867283delinsAG GRCh37
NC_000016.8:g.67424783_67424784delinsAG NCBI36
NG_008021.1:g.101088_101089delinsAG , LRG_301:g.101088_101089delinsAG

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2529_2530delinsAG MANE Select ENSP00000261769.4:p.Ser844Gly
ENST00000261769.9:c.2529_2530delinsAG ENSP00000261769.4:p.Ser844Gly
ENST00000422392.6:c.2346_2347delinsAG ENSP00000414946.2:p.Ser783Gly
ENST00000562118.1:n.747_748delinsAG
ENST00000562836.5:n.2600_2601delinsAG
ENST00000566510.5:c.*1195_*1196delinsAG ENSP00000458139.1:n.*1195_*1196delinsAG
ENST00000566612.5:c.*769_*770delinsAG ENSP00000454782.1:n.*769_*770delinsAG
ENST00000611625.4:c.2592_2593delinsAG ENSP00000481063.1:p.Ser865Gly
ENST00000612417.4:c.1854-812_1854-811delinsAG ENSP00000478360.1:n.1854-812_1854-811delinsAG
ENST00000621016.4:c.1866-824_1866-823delinsAG ENSP00000480664.1:n.1866-824_1866-823delinsAG
NM_004360.3:c.2529_2530delinsAG , LRG_301t1:c.2529_2530delinsAG NP_004351.1:p.Ser844Gly
XM_011523488.1:c.1794_1795delinsAG XP_011521790.1:p.Ser599Gly
XM_011523489.1:c.1794_1795delinsAG XP_011521791.1:p.Ser599Gly
NM_001317184.1:c.2346_2347delinsAG NP_001304113.1:p.Ser783Gly
NM_001317185.1:c.981_982delinsAG NP_001304114.1:p.Ser328Gly
NM_001317186.1:c.564_565delinsAG NP_001304115.1:p.Ser189Gly
NM_004360.4:c.2529_2530delinsAG NP_004351.1:p.Ser844Gly
NM_004360.5:c.2529_2530delinsAG MANE Select NP_004351.1:p.Ser844Gly
NM_001317184.2:c.2346_2347delinsAG NP_001304113.1:p.Ser783Gly
NM_001317185.2:c.981_982delinsAG NP_001304114.1:p.Ser328Gly
NM_001317186.2:c.564_565delinsAG NP_001304115.1:p.Ser189Gly
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