Canonical Allele Identifier: CA658683946
Gene: CDH1 HGNC NCBI

Linked Data

ClinVar Variation Id: 491538
ClinVar RCV Id: RCV000581892 RCV003328432
dbSNP Id: rs1555515214
MyVariant Identifiers: chr16:g.68842396_68842399del (hg19) chr16:g.68808493_68808496del (hg38)
ERepo: CA658683946/MONDO:0007648/007 CA658683946/MONDO:0100488/007
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.68808493_68808496del , CM000678.2:g.68808493_68808496del GRCh38
NC_000016.9:g.68842396_68842399del , CM000678.1:g.68842396_68842399del GRCh37
NC_000016.8:g.67399897_67399900del NCBI36
NG_008021.1:g.76202_76205del , LRG_301:g.76202_76205del

Transcript Alleles

HGVS Amino-acid Change
ENST00000261769.10:c.457_460del MANE Select ENSP00000261769.4:p.Lys153GlufsTer?
ENST00000261769.9:c.457_460del ENSP00000261769.4:p.Lys153GlufsTer?
ENST00000422392.6:c.457_460del ENSP00000414946.2:p.Lys153GlufsTer?
ENST00000561751.1:c.224_227del
ENST00000562836.5:n.528_531del
ENST00000564676.5:n.739_742del
ENST00000564745.1:n.452_455del
ENST00000566510.5:c.457_460del ENSP00000458139.1:p.Lys153GlufsTer?
ENST00000566612.5:c.457_460del ENSP00000454782.1:p.Lys153GlufsTer?
ENST00000611625.4:c.457_460del ENSP00000481063.1:p.Lys153GlufsTer?
ENST00000612417.4:c.457_460del ENSP00000478360.1:p.Lys153GlufsTer?
ENST00000621016.4:c.457_460del ENSP00000480664.1:p.Lys153GlufsTer?
NM_004360.3:c.457_460del , LRG_301t1:c.457_460del NP_004351.1:p.Lys153GlufsTer?
XM_011523488.1:c.-279_-276del XP_011521790.1:n.-279_-276del
XM_011523489.1:c.-279_-276del XP_011521791.1:n.-279_-276del
NM_001317184.1:c.457_460del NP_001304113.1:p.Lys153GlufsTer?
NM_001317185.1:c.-1159_-1156del NP_001304114.1:n.-1159_-1156del
NM_001317186.1:c.-1363_-1360del NP_001304115.1:n.-1363_-1360del
NM_004360.4:c.457_460del NP_004351.1:p.Lys153GlufsTer?
NM_004360.5:c.457_460del MANE Select NP_004351.1:p.Lys153GlufsTer?
NM_001317184.2:c.457_460del NP_001304113.1:p.Lys153GlufsTer?
NM_001317185.2:c.-1159_-1156del NP_001304114.1:n.-1159_-1156del
NM_001317186.2:c.-1363_-1360del NP_001304115.1:n.-1363_-1360del
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