Canonical Allele Identifier: CA2839365627
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829682dup , CM000678.2:g.68829682dup GRCh38
NC_000016.9:g.68863585dup , CM000678.1:g.68863585dup GRCh37
NC_000016.8:g.67421086dup NCBI36
NG_008021.1:g.97391dup , LRG_301:g.97391dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2324dup MANE Select ENSP00000261769.4:p.Leu776ProfsTer6
ENST00000261769.9:c.2324dup ENSP00000261769.4:p.Leu776ProfsTer6
ENST00000422392.6:c.2141dup ENSP00000414946.2:p.Leu715ProfsTer6
ENST00000562118.1:n.542dup
ENST00000562836.5:n.2395dup
ENST00000566510.5:c.*990dup ENSP00000458139.1:n.*990dup
ENST00000566612.5:c.*564dup ENSP00000454782.1:n.*564dup
ENST00000611625.4:c.2387dup ENSP00000481063.1:p.Leu797ProfsTer6
ENST00000612417.4:c.1853+3128dup ENSP00000478360.1:n.1853+3128dup
ENST00000621016.4:c.1866-4521dup ENSP00000480664.1:n.1866-4521dup
NM_004360.3:c.2324dup , LRG_301t1:c.2324dup NP_004351.1:p.Leu776ProfsTer6
XM_011523488.1:c.1589dup XP_011521790.1:p.Leu531ProfsTer6
XM_011523489.1:c.1589dup XP_011521791.1:p.Leu531ProfsTer6
NM_001317184.1:c.2141dup NP_001304113.1:p.Leu715ProfsTer6
NM_001317185.1:c.776dup NP_001304114.1:p.Leu260ProfsTer6
NM_001317186.1:c.359dup NP_001304115.1:p.Leu121ProfsTer6
NM_004360.4:c.2324dup NP_004351.1:p.Leu776ProfsTer6
NM_004360.5:c.2324dup MANE Select NP_004351.1:p.Leu776ProfsTer6
NM_001317184.2:c.2141dup NP_001304113.1:p.Leu715ProfsTer6
NM_001317185.2:c.776dup NP_001304114.1:p.Leu260ProfsTer6
NM_001317186.2:c.359dup NP_001304115.1:p.Leu121ProfsTer6