Canonical Allele Identifier: CA2545607660

Gene: PLBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507226_14507227insTTGG , CM000674.2:g.14507226_14507227insTTGG	GRCh38
NC_000012.11:g.14660160_14660161insTTGG , CM000674.1:g.14660160_14660161insTTGG	GRCh37
NC_000012.10:g.14551427_14551428insTTGG	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1187-109_1187-108insCCAA MANE Select	ENSP00000240617.5:n.1187-109_1187-108insCCAA
ENST00000240617.9:c.1187-109_1187-108insCCAA	ENSP00000240617.5:n.1187-109_1187-108insCCAA
NM_024829.5:c.1187-109_1187-108insCCAA	NP_079105.4:n.1187-109_1187-108insCCAA
NM_024829.6:c.1187-109_1187-108insCCAA MANE Select	NP_079105.4:n.1187-109_1187-108insCCAA