Canonical Allele Identifier: CA2617768289
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14506980-CCTTGGTCA-C
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14506982_14506989del , CM000674.2:g.14506982_14506989del GRCh38
NC_000012.11:g.14659916_14659923del , CM000674.1:g.14659916_14659923del GRCh37
NC_000012.10:g.14551183_14551190del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1317_1324del MANE Select ENSP00000240617.5:p.Asp440GlufsTer4
ENST00000240617.9:c.1317_1324del ENSP00000240617.5:p.Asp440GlufsTer4
NM_024829.5:c.1317_1324del NP_079105.4:p.Asp440GlufsTer4
NM_024829.6:c.1317_1324del MANE Select NP_079105.4:p.Asp440GlufsTer4
Search 100 bp 5'
Search 100 bp 3'