Canonical Allele Identifier: CA348941
Community Standard Title: NM_004360.5(CDH1):c.504del (p.Gly169AlafsTer?)
Gene: CDH1 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808540del , CM000678.2:g.68808540del GRCh38
NC_000016.9:g.68842443del , CM000678.1:g.68842443del GRCh37
NC_000016.8:g.67399944del NCBI36
NG_008021.1:g.76249del , LRG_301:g.76249del

Transcript Alleles

HGVS Amino-acid Change
NM_004360.5:c.504del MANE Select NP_004351.1:p.Gly169AlafsTer?
ENST00000261769.10:c.504del MANE Select ENSP00000261769.4:p.Gly169AlafsTer?
NM_001317184.1:c.504del NP_001304113.1:p.Gly169AlafsTer?
NM_001317184.2:c.504del NP_001304113.1:p.Gly169AlafsTer?
NM_001317185.1:c.-1112del NP_001304114.1:n.-1112del
NM_001317185.2:c.-1112del NP_001304114.1:n.-1112del
NM_001317186.1:c.-1316del NP_001304115.1:n.-1316del
NM_001317186.2:c.-1316del NP_001304115.1:n.-1316del
NM_004360.3:c.504del , LRG_301t1:c.504del NP_004351.1:p.Gly169AlafsTer?
NM_004360.4:c.504del NP_004351.1:p.Gly169AlafsTer?
ENST00000261769.9:c.504del ENSP00000261769.4:p.Gly169AlafsTer?
ENST00000422392.6:c.504del ENSP00000414946.2:p.Gly169AlafsTer?
ENST00000561751.1:c.271del
ENST00000562836.5:n.575del
ENST00000564676.5:n.786del
ENST00000564745.1:n.499del
ENST00000566510.5:c.504del ENSP00000458139.1:p.Gly169AlafsTer29
ENST00000566612.5:c.504del ENSP00000454782.1:p.Gly169AlafsTer?
ENST00000567320.1:n.14del
ENST00000611625.4:c.504del ENSP00000481063.1:p.Gly169AlafsTer?
ENST00000612417.4:c.504del ENSP00000478360.1:p.Gly169AlafsTer?
ENST00000621016.4:c.504del ENSP00000480664.1:p.Gly169AlafsTer?
XM_011523488.1:c.-232del XP_011521790.1:n.-232del
XM_011523489.1:c.-232del XP_011521791.1:n.-232del
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