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: CA1017029767

Gene: BPIFB1 HGNC NCBI

Linked Data

dbSNP Id: rs1979910411

gnomAD v3: 20-33275226-CT-C

gnomAD v4: 20-33275226-CT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000020.11:g.33275227del , CM000682.2:g.33275227del	GRCh38
NC_000020.10:g.31863033del , CM000682.1:g.31863033del	GRCh37
NC_000020.9:g.31326694del	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000423645.5:c.-42+1573del	ENSP00000390471.1:n.-42+1573del
XM_024452018.1:c.-295+1573del	XP_024307786.1:n.-295+1573del

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