Canonical Allele Identifier: CA249926
Gene: PCDHB4 HGNC NCBI

Linked Data

ClinVar Variation Id: 183300
ClinVar RCV Id: RCV000162121 RCV001589022 RCV002464133
dbSNP Id: rs372292910
ExAC: 5:140502486 GA / G
gnomAD v2: 5-140502486-GA-G
gnomAD v3: 5-141122904-GA-G
gnomAD v4: 5-141122904-GA-G
COSMIC: COSM313986
MyVariant Identifiers: chr5:g.140502495del (hg19) chr5:g.140502487del (hg19) chr5:g.141122913del (hg38) chr5:g.141122905del (hg38)
PubMed: PMID:25558065
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.141122913del , CM000667.2:g.141122913del GRCh38
NC_000005.9:g.140502495del , CM000667.1:g.140502495del GRCh37
NC_000005.8:g.140482679del NCBI36
NG_050761.1:g.6164del

Transcript Alleles

HGVS Amino-acid Change
ENST00000194152.4:c.915del MANE Select ENSP00000194152.1:p.Lys305AsnfsTer12
ENST00000194152.3:c.915del ENSP00000194152.1:p.Lys305AsnfsTer12
ENST00000623478.1:n.214-242del
NM_018938.3:c.915del NP_061761.1:p.Lys305AsnfsTer12
NM_018938.4:c.915del MANE Select NP_061761.1:p.Lys305AsnfsTer12
Search 100 bp 5'
Search 100 bp 3'