Allele Registry

UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.

Canonical Allele Identifier: CA974016121

Gene: PPL HGNC NCBI

Linked Data

dbSNP Id: rs1052114226

gnomAD v3: 16-4951435-TAA-T

gnomAD v4: 16-4951435-TAA-T

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.4951443_4951444del , CM000678.2:g.4951443_4951444del	GRCh38
NC_000016.9:g.5001444_5001445del , CM000678.1:g.5001444_5001445del	GRCh37
NC_000016.8:g.4941445_4941446del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000592772.1:c.-92+9127_-92+9128del	ENSP00000467699.1:n.-92+9127_-92+9128del

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