Canonical Allele Identifier: CA645369682
Community Standard Title: NM_004360.5(CDH1):c.1131del (p.Thr378ProfsTer15)
Gene: CDH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68812257del , CM000678.2:g.68812257del GRCh38
NC_000016.9:g.68846160del , CM000678.1:g.68846160del GRCh37
NC_000016.8:g.67403661del NCBI36
NG_008021.1:g.79966del , LRG_301:g.79966del

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.1131del MANE Select NP_004351.1:p.Thr378ProfsTer15
ENST00000261769.10:c.1131del MANE Select ENSP00000261769.4:p.Thr378ProfsTer15
NM_001317184.1:c.1131del NP_001304113.1:p.Thr378ProfsTer16
NM_001317184.2:c.1131del NP_001304113.1:p.Thr378ProfsTer16
NM_001317185.1:c.-485del NP_001304114.1:n.-485del
NM_001317185.2:c.-485del NP_001304114.1:n.-485del
NM_001317186.1:c.-689del NP_001304115.1:n.-689del
NM_001317186.2:c.-689del NP_001304115.1:n.-689del
NM_004360.3:c.1131del , LRG_301t1:c.1131del NP_004351.1:p.Thr378ProfsTer15
NM_004360.4:c.1131del NP_004351.1:p.Thr378ProfsTer15
ENST00000261769.9:c.1131del ENSP00000261769.4:p.Thr378ProfsTer15
ENST00000422392.6:c.1131del ENSP00000414946.2:p.Thr378ProfsTer16
ENST00000562836.5:n.1202del
ENST00000565810.1:n.175del
ENST00000566510.5:c.975del ENSP00000458139.1:p.Thr326ProfsTer15
ENST00000566612.5:c.1131del ENSP00000454782.1:p.Thr378ProfsTer15
ENST00000611625.4:c.1131del ENSP00000481063.1:p.Thr378ProfsTer15
ENST00000612417.4:c.1131del ENSP00000478360.1:p.Thr378ProfsTer15
ENST00000621016.4:c.1131del ENSP00000480664.1:p.Thr378ProfsTer15
XM_011523488.1:c.396del XP_011521790.1:p.Thr133ProfsTer15
XM_011523489.1:c.396del XP_011521791.1:p.Thr133ProfsTer15
Search 100 bp 5'
Search 100 bp 3'