Canonical Allele Identifier: CA2017888421

Gene: PLBD1

Linked Data

• dbSNP Id: rs1945262963

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507137_14507138insTTAC , CM000674.2:g.14507137_14507138insTTAC	GRCh38
NC_000012.11:g.14660071_14660072insTTAC , CM000674.1:g.14660071_14660072insTTAC	GRCh37
NC_000012.10:g.14551338_14551339insTTAC	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1187-20_1187-19insGTAA MANE Select	ENSP00000240617.5:n.1187-20_1187-19insGTAA
ENST00000240617.9:c.1187-20_1187-19insGTAA	ENSP00000240617.5:n.1187-20_1187-19insGTAA
NM_024829.5:c.1187-20_1187-19insGTAA	NP_079105.4:n.1187-20_1187-19insGTAA
NM_024829.6:c.1187-20_1187-19insGTAA MANE Select	NP_079105.4:n.1187-20_1187-19insGTAA