Canonical Allele Identifier: CA721246634

Gene: PPL

Linked Data

• dbSNP Id: rs1052114226
• gnomAD v3: 16-4951435-T-TA
• gnomAD v4: 16-4951435-T-TA
• MyVariant Identifiers: chr16:g.5001436_5001437insA (hg19) ; chr16:g.4951435_4951436insA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951444dup , CM000678.2:g.4951444dup	GRCh38
NC_000016.9:g.5001445dup , CM000678.1:g.5001445dup	GRCh37
NC_000016.8:g.4941446dup	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9128dup	ENSP00000467699.1:n.-92+9128dup