Canonical Allele Identifier: CA6462521
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs778098502
ExAC: 12:14660041 A / AG
gnomAD v2: 12-14660041-A-AG
gnomAD v4: 12-14507107-A-AG
MyVariant Identifiers: chr12:g.14660041_14660042insG (hg19) chr12:g.14507107_14507108insG (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507110dup , CM000674.2:g.14507110dup GRCh38
NC_000012.11:g.14660044dup , CM000674.1:g.14660044dup GRCh37
NC_000012.10:g.14551311dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1197dup MANE Select ENSP00000240617.5:p.Ser400LeufsTer8
ENST00000240617.9:c.1197dup ENSP00000240617.5:p.Ser400LeufsTer8
NM_024829.5:c.1197dup NP_079105.4:p.Ser400LeufsTer8
NM_024829.6:c.1197dup MANE Select NP_079105.4:p.Ser400LeufsTer8
Search 100 bp 5'
Search 100 bp 3'