Canonical Allele Identifier: CA313244805
Gene: BPIFB1 HGNC NCBI

Linked Data

dbSNP Id: rs953568206
gnomAD v3: 20-33275234-CA-C
gnomAD v4: 20-33275234-CA-C
MyVariant Identifiers: chr20:g.31863041del (hg19) chr20:g.33275235del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.33275243del , CM000682.2:g.33275243del GRCh38
NC_000020.10:g.31863049del , CM000682.1:g.31863049del GRCh37
NC_000020.9:g.31326710del NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000423645.5:c.-42+1589del ENSP00000390471.1:n.-42+1589del
XM_024452018.1:c.-295+1589del XP_024307786.1:n.-295+1589del
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