Canonical Allele Identifier: CA2017888416
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1945262934
gnomAD v4: 12-14507134-A-AG
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507137dup , CM000674.2:g.14507137dup GRCh38
NC_000012.11:g.14660071dup , CM000674.1:g.14660071dup GRCh37
NC_000012.10:g.14551338dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-17dup MANE Select ENSP00000240617.5:n.1187-17dup
ENST00000240617.9:c.1187-17dup ENSP00000240617.5:n.1187-17dup
NM_024829.5:c.1187-17dup NP_079105.4:n.1187-17dup
NM_024829.6:c.1187-17dup MANE Select NP_079105.4:n.1187-17dup
Search 100 bp 5'
Search 100 bp 3'