Canonical Allele Identifier: CA944992035
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1945264186
gnomAD v3: 12-14507271-C-CA
gnomAD v4: 12-14507271-C-CA
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507272dup , CM000674.2:g.14507272dup GRCh38
NC_000012.11:g.14660206dup , CM000674.1:g.14660206dup GRCh37
NC_000012.10:g.14551473dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-154dup MANE Select ENSP00000240617.5:n.1187-154dup
ENST00000240617.9:c.1187-154dup ENSP00000240617.5:n.1187-154dup
NM_024829.5:c.1187-154dup NP_079105.4:n.1187-154dup
NM_024829.6:c.1187-154dup MANE Select NP_079105.4:n.1187-154dup
Search 100 bp 5'
Search 100 bp 3'