Canonical Allele Identifier: CA636608678
Gene: CDH4 HGNC NCBI

Linked Data

dbSNP Id: rs1367432489
gnomAD v2: 20-60503252-AC-A
gnomAD v4: 20-61928194-AC-A
COSMIC: COSM2765998
MyVariant Identifiers: chr20:g.60503253del (hg19) chr20:g.61928195del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.61928199del , CM000682.2:g.61928199del GRCh38
NC_000020.10:g.60503257del , CM000682.1:g.60503257del GRCh37
NC_000020.9:g.59936652del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000614565.5:c.1781del MANE Select ENSP00000484928.1:p.Pro594ArgfsTer?
ENST00000543233.2:c.1559del ENSP00000443301.1:p.Pro520ArgfsTer?
ENST00000611855.4:c.1499del ENSP00000480844.1:p.Pro500ArgfsTer?
ENST00000614565.4:c.1781del ENSP00000484928.1:p.Pro594ArgfsTer?
NM_001252338.2:c.1670del NP_001239267.1:p.Pro557ArgfsTer?
NM_001252339.2:c.1559del NP_001239268.1:p.Pro520ArgfsTer?
NM_001794.4:c.1781del NP_001785.2:p.Pro594ArgfsTer?
NM_001794.5:c.1781del MANE Select NP_001785.2:p.Pro594ArgfsTer?
NM_001252339.3:c.1559del NP_001239268.1:p.Pro520ArgfsTer?
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