Canonical Allele Identifier: CA2725545748
Gene: PLBD1 HGNC NCBI

Linked Data

dbSNP Id: rs2136903127

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.14507120_14507121insTTCC , CM000674.2:g.14507120_14507121insTTCC GRCh38
NC_000012.11:g.14660054_14660055insTTCC , CM000674.1:g.14660054_14660055insTTCC GRCh37
NC_000012.10:g.14551321_14551322insTTCC NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000240617.10:c.1187-3_1187-2insGGAA MANE Select ENSP00000240617.5:n.1187-3_1187-2insGGAA
ENST00000240617.9:c.1187-3_1187-2insGGAA ENSP00000240617.5:n.1187-3_1187-2insGGAA
NM_024829.5:c.1187-3_1187-2insGGAA NP_079105.4:n.1187-3_1187-2insGGAA
NM_024829.6:c.1187-3_1187-2insGGAA MANE Select NP_079105.4:n.1187-3_1187-2insGGAA