Canonical Allele Identifier: CA2617768297
Gene: PLBD1 HGNC NCBI

Linked Data

gnomAD v4: 12-14507095-GAA-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507096_14507097del , CM000674.2:g.14507096_14507097del GRCh38
NC_000012.11:g.14660030_14660031del , CM000674.1:g.14660030_14660031del GRCh37
NC_000012.10:g.14551297_14551298del NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1208_1209del MANE Select ENSP00000240617.5:p.Val403AlafsTer4
ENST00000240617.9:c.1208_1209del ENSP00000240617.5:p.Val403AlafsTer4
NM_024829.5:c.1208_1209del NP_079105.4:p.Val403AlafsTer4
NM_024829.6:c.1208_1209del MANE Select NP_079105.4:p.Val403AlafsTer4
Search 100 bp 5'
Search 100 bp 3'