Canonical Allele Identifier: CA603609421
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1357674845
gnomAD v2: 12-14659819-GAAGAA-G
gnomAD v4: 12-14506885-GAAGAA-G
MyVariant Identifiers: chr12:g.14659820_14659824del (hg19) chr12:g.14506886_14506890del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506889_14506893del , CM000674.2:g.14506889_14506893del GRCh38
NC_000012.11:g.14659823_14659827del , CM000674.1:g.14659823_14659827del GRCh37
NC_000012.10:g.14551090_14551094del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1372+43_1372+47del MANE Select ENSP00000240617.5:n.1372+43_1372+47del
ENST00000240617.9:c.1372+43_1372+47del ENSP00000240617.5:n.1372+43_1372+47del
NM_024829.5:c.1372+43_1372+47del NP_079105.4:n.1372+43_1372+47del
NM_024829.6:c.1372+43_1372+47del MANE Select NP_079105.4:n.1372+43_1372+47del
Search 100 bp 5'
Search 100 bp 3'