Canonical Allele Identifier: CA10588623
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 265543
ClinVar RCV Id: RCV000256004 RCV001195174 RCV002494804 RCV003328316
dbSNP Id: rs886039612
MyVariant Identifiers: chr16:g.68849451_68849454del (hg19) chr16:g.68815548_68815551del (hg38)
ERepo: CA10588623/MONDO:0007648/007 CA10588623/MONDO:0100488/007
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68815548_68815551del , CM000678.2:g.68815548_68815551del GRCh38
NC_000016.9:g.68849451_68849454del , CM000678.1:g.68849451_68849454del GRCh37
NC_000016.8:g.67406952_67406955del NCBI36
NG_008021.1:g.83257_83260del , LRG_301:g.83257_83260del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.1354_1357del MANE Select ENSP00000261769.4:p.Leu452ThrfsTer2
ENST00000261769.9:c.1354_1357del ENSP00000261769.4:p.Leu452ThrfsTer2
ENST00000422392.6:c.1171_1174del ENSP00000414946.2:p.Leu391ThrfsTer2
ENST00000562836.5:n.1425_1428del
ENST00000566510.5:c.*20_*23del ENSP00000458139.1:n.*20_*23del
ENST00000566612.5:c.1354_1357del ENSP00000454782.1:p.Leu452ThrfsTer2
ENST00000611625.4:c.1417_1420del ENSP00000481063.1:p.Leu473ThrfsTer2
ENST00000612417.4:c.1354_1357del ENSP00000478360.1:p.Leu452ThrfsTer2
ENST00000621016.4:c.1354_1357del ENSP00000480664.1:p.Leu452ThrfsTer2
NM_004360.3:c.1354_1357del , LRG_301t1:c.1354_1357del NP_004351.1:p.Leu452ThrfsTer2
XM_011523488.1:c.619_622del XP_011521790.1:p.Leu207ThrfsTer2
XM_011523489.1:c.619_622del XP_011521791.1:p.Leu207ThrfsTer2
NM_001317184.1:c.1171_1174del NP_001304113.1:p.Leu391ThrfsTer2
NM_001317185.1:c.-195_-192del NP_001304114.1:n.-195_-192del
NM_001317186.1:c.-466_-463del NP_001304115.1:n.-466_-463del
NM_004360.4:c.1354_1357del NP_004351.1:p.Leu452ThrfsTer2
NM_004360.5:c.1354_1357del MANE Select NP_004351.1:p.Leu452ThrfsTer2
NM_001317184.2:c.1171_1174del NP_001304113.1:p.Leu391ThrfsTer2
NM_001317185.2:c.-195_-192del NP_001304114.1:n.-195_-192del
NM_001317186.2:c.-466_-463del NP_001304115.1:n.-466_-463del
Search 100 bp 5'
Search 100 bp 3'