Canonical Allele Identifier: CA10583421
Community Standard Title: NM_004360.5(CDH1):c.2282_2284del (p.Gly761del)
Gene: CDH1 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68828291_68828293del , CM000678.2:g.68828291_68828293del GRCh38
NC_000016.9:g.68862194_68862196del , CM000678.1:g.68862194_68862196del GRCh37
NC_000016.8:g.67419695_67419697del NCBI36
NG_008021.1:g.96000_96002del , LRG_301:g.96000_96002del

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.2282_2284del MANE Select NP_004351.1:p.Gly761del
ENST00000261769.10:c.2282_2284del MANE Select ENSP00000261769.4:p.Gly761del
NM_001317184.1:c.2099_2101del NP_001304113.1:p.Gly700del
NM_001317184.2:c.2099_2101del NP_001304113.1:p.Gly700del
NM_001317185.1:c.734_736del NP_001304114.1:p.Gly245del
NM_001317185.2:c.734_736del NP_001304114.1:p.Gly245del
NM_001317186.1:c.317_319del NP_001304115.1:p.Gly106del
NM_001317186.2:c.317_319del NP_001304115.1:p.Gly106del
NM_004360.3:c.2282_2284del , LRG_301t1:c.2282_2284del NP_004351.1:p.Gly761del
NM_004360.4:c.2282_2284del NP_004351.1:p.Gly761del
ENST00000261769.9:c.2282_2284del ENSP00000261769.4:p.Gly761del
ENST00000422392.6:c.2099_2101del ENSP00000414946.2:p.Gly700del
ENST00000562118.1:n.500_502del
ENST00000562836.5:n.2353_2355del
ENST00000566510.5:c.*948_*950del ENSP00000458139.1:n.*948_*950del
ENST00000566612.5:c.*522_*524del ENSP00000454782.1:n.*522_*524del
ENST00000611625.4:c.2345_2347del ENSP00000481063.1:p.Gly782del
ENST00000612417.4:c.1853+1737_1853+1739del ENSP00000478360.1:n.1853+1737_1853+1739del
ENST00000621016.4:c.1866-5912_1866-5910del ENSP00000480664.1:n.1866-5912_1866-5910del
XM_011523488.1:c.1547_1549del XP_011521790.1:p.Gly516del
XM_011523489.1:c.1547_1549del XP_011521791.1:p.Gly516del