Canonical Allele Identifier: CA944991949
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs1343044598
gnomAD v3: 12-14507079-AT-A
gnomAD v4: 12-14507079-AT-A
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507085del , CM000674.2:g.14507085del GRCh38
NC_000012.11:g.14660019del , CM000674.1:g.14660019del GRCh37
NC_000012.10:g.14551286del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1225del MANE Select ENSP00000240617.5:p.Ile409SerfsTer10
ENST00000240617.9:c.1225del ENSP00000240617.5:p.Ile409SerfsTer10
NM_024829.5:c.1225del NP_079105.4:p.Ile409SerfsTer10
NM_024829.6:c.1225del MANE Select NP_079105.4:p.Ile409SerfsTer10
Search 100 bp 5'
Search 100 bp 3'