Canonical Allele Identifier: CA6462491
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs781292293
ExAC: 12:14659899 G / GT
gnomAD v2: 12-14659899-G-GT
gnomAD v4: 12-14506965-G-GT
MyVariant Identifiers: chr12:g.14659899_14659900insT (hg19) chr12:g.14506965_14506966insT (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506966dup , CM000674.2:g.14506966dup GRCh38
NC_000012.11:g.14659900dup , CM000674.1:g.14659900dup GRCh37
NC_000012.10:g.14551167dup NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1339dup MANE Select ENSP00000240617.5:p.Thr447AsnfsTer14
ENST00000240617.9:c.1339dup ENSP00000240617.5:p.Thr447AsnfsTer14
NM_024829.5:c.1339dup NP_079105.4:p.Thr447AsnfsTer14
NM_024829.6:c.1339dup MANE Select NP_079105.4:p.Thr447AsnfsTer14
Search 100 bp 5'
Search 100 bp 3'