Canonical Allele Identifier: CA913188736
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316954
dbSNP Id: rs2152144007

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68833381_68833383delinsTTT , CM000678.2:g.68833381_68833383delinsTTT GRCh38
NC_000016.9:g.68867284_68867286delinsTTT , CM000678.1:g.68867284_68867286delinsTTT GRCh37
NC_000016.8:g.67424785_67424787delinsTTT NCBI36
NG_008021.1:g.101090_101092delinsTTT , LRG_301:g.101090_101092delinsTTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2531_2533delinsTTT MANE Select ENSP00000261769.4:p.Ser844Ile
ENST00000261769.9:c.2531_2533delinsTTT ENSP00000261769.4:p.Ser844Ile
ENST00000422392.6:c.2348_2350delinsTTT ENSP00000414946.2:p.Ser783Ile
ENST00000562118.1:n.749_751delinsTTT
ENST00000562836.5:n.2602_2604delinsTTT
ENST00000566510.5:c.*1197_*1199delinsTTT ENSP00000458139.1:n.*1197_*1199delinsTTT
ENST00000566612.5:c.*771_*773delinsTTT ENSP00000454782.1:n.*771_*773delinsTTT
ENST00000611625.4:c.2594_2596delinsTTT ENSP00000481063.1:p.Ser865Ile
ENST00000612417.4:c.1854-810_1854-808delinsTTT ENSP00000478360.1:n.1854-810_1854-808delinsTTT
ENST00000621016.4:c.1866-822_1866-820delinsTTT ENSP00000480664.1:n.1866-822_1866-820delinsTTT
NM_004360.3:c.2531_2533delinsTTT , LRG_301t1:c.2531_2533delinsTTT NP_004351.1:p.Ser844Ile
XM_011523488.1:c.1796_1798delinsTTT XP_011521790.1:p.Ser599Ile
XM_011523489.1:c.1796_1798delinsTTT XP_011521791.1:p.Ser599Ile
NM_001317184.1:c.2348_2350delinsTTT NP_001304113.1:p.Ser783Ile
NM_001317185.1:c.983_985delinsTTT NP_001304114.1:p.Ser328Ile
NM_001317186.1:c.566_568delinsTTT NP_001304115.1:p.Ser189Ile
NM_004360.4:c.2531_2533delinsTTT NP_004351.1:p.Ser844Ile
NM_004360.5:c.2531_2533delinsTTT MANE Select NP_004351.1:p.Ser844Ile
NM_001317184.2:c.2348_2350delinsTTT NP_001304113.1:p.Ser783Ile
NM_001317185.2:c.983_985delinsTTT NP_001304114.1:p.Ser328Ile
NM_001317186.2:c.566_568delinsTTT NP_001304115.1:p.Ser189Ile