Canonical Allele Identifier: CA1139664745
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 944215
ClinVar RCV Id: RCV001214568
dbSNP Id: rs1961435319

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68829801_68829802dup , CM000678.2:g.68829801_68829802dup GRCh38
NC_000016.9:g.68863704_68863705dup , CM000678.1:g.68863704_68863705dup GRCh37
NC_000016.8:g.67421205_67421206dup NCBI36
NG_008021.1:g.97510_97511dup , LRG_301:g.97510_97511dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.2439+4_2439+5dup MANE Select ENSP00000261769.4:n.2439+4_2439+5dup
ENST00000261769.9:c.2439+4_2439+5dup ENSP00000261769.4:n.2439+4_2439+5dup
ENST00000422392.6:c.2256+4_2256+5dup ENSP00000414946.2:n.2256+4_2256+5dup
ENST00000562118.1:n.657+4_657+5dup
ENST00000562836.5:n.2510+4_2510+5dup
ENST00000566510.5:c.*1105+4_*1105+5dup ENSP00000458139.1:n.*1105+4_*1105+5dup
ENST00000566612.5:c.*679+4_*679+5dup ENSP00000454782.1:n.*679+4_*679+5dup
ENST00000611625.4:c.2502+4_2502+5dup ENSP00000481063.1:n.2502+4_2502+5dup
ENST00000612417.4:c.1853+3247_1853+3248dup ENSP00000478360.1:n.1853+3247_1853+3248dup
ENST00000621016.4:c.1866-4402_1866-4401dup ENSP00000480664.1:n.1866-4402_1866-4401dup
NM_004360.3:c.2439+4_2439+5dup , LRG_301t1:c.2439+4_2439+5dup NP_004351.1:n.2439+4_2439+5dup
XM_011523488.1:c.1704+4_1704+5dup XP_011521790.1:n.1704+4_1704+5dup
XM_011523489.1:c.1704+4_1704+5dup XP_011521791.1:n.1704+4_1704+5dup
NM_001317184.1:c.2256+4_2256+5dup NP_001304113.1:n.2256+4_2256+5dup
NM_001317185.1:c.891+4_891+5dup NP_001304114.1:n.891+4_891+5dup
NM_001317186.1:c.474+4_474+5dup NP_001304115.1:n.474+4_474+5dup
NM_004360.4:c.2439+4_2439+5dup NP_004351.1:n.2439+4_2439+5dup
NM_004360.5:c.2439+4_2439+5dup MANE Select NP_004351.1:n.2439+4_2439+5dup
NM_001317184.2:c.2256+4_2256+5dup NP_001304113.1:n.2256+4_2256+5dup
NM_001317185.2:c.891+4_891+5dup NP_001304114.1:n.891+4_891+5dup
NM_001317186.2:c.474+4_474+5dup NP_001304115.1:n.474+4_474+5dup