Canonical Allele Identifier: CA2617768321

Gene: PLBD1

Linked Data

• gnomAD v4: 12-14507158-G-GGGAA

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14507162_14507165dup , CM000674.2:g.14507162_14507165dup	GRCh38
NC_000012.11:g.14660096_14660099dup , CM000674.1:g.14660096_14660099dup	GRCh37
NC_000012.10:g.14551363_14551366dup	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1187-44_1187-41dup MANE Select	ENSP00000240617.5:n.1187-44_1187-41dup
ENST00000240617.9:c.1187-44_1187-41dup	ENSP00000240617.5:n.1187-44_1187-41dup
NM_024829.5:c.1187-44_1187-41dup	NP_079105.4:n.1187-44_1187-41dup
NM_024829.6:c.1187-44_1187-41dup MANE Select	NP_079105.4:n.1187-44_1187-41dup