Canonical Allele Identifier: CA974016044
Gene: PPL HGNC NCBI

Linked Data

dbSNP Id: rs2089422473
gnomAD v3: 16-4951348-AC-A
gnomAD v4: 16-4951348-AC-A
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.4951351del , CM000678.2:g.4951351del GRCh38
NC_000016.9:g.5001352del , CM000678.1:g.5001352del GRCh37
NC_000016.8:g.4941353del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000592772.1:c.-92+9215del ENSP00000467699.1:n.-92+9215del
Search 100 bp 5'
Search 100 bp 3'