Canonical Allele Identifier: CA6462517
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs756538248
ExAC: 12:14660024 GA / G
gnomAD v2: 12-14660024-GA-G
gnomAD v4: 12-14507090-GA-G
MyVariant Identifiers: chr12:g.14660025del (hg19) chr12:g.14507091del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507093del , CM000674.2:g.14507093del GRCh38
NC_000012.11:g.14660027del , CM000674.1:g.14660027del GRCh37
NC_000012.10:g.14551294del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1214del MANE Select ENSP00000240617.5:p.Phe405SerfsTer14
ENST00000240617.9:c.1214del ENSP00000240617.5:p.Phe405SerfsTer14
NM_024829.5:c.1214del NP_079105.4:p.Phe405SerfsTer14
NM_024829.6:c.1214del MANE Select NP_079105.4:p.Phe405SerfsTer14
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