Canonical Allele Identifier: CA2017888273

Gene: PLBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506855_14506861delinsATAAACT , CM000674.2:g.14506855_14506861delinsATAAACT	GRCh38
NC_000012.11:g.14659789_14659795delinsATAAACT , CM000674.1:g.14659789_14659795delinsATAAACT	GRCh37
NC_000012.10:g.14551056_14551062delinsATAAACT	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1372+72_1372+78delinsAGTTTAT MANE Select	ENSP00000240617.5:n.1372+72_1372+78delinsAGTTTAT
ENST00000240617.9:c.1372+72_1372+78delinsAGTTTAT	ENSP00000240617.5:n.1372+72_1372+78delinsAGTTTAT
NM_024829.5:c.1372+72_1372+78delinsAGTTTAT	NP_079105.4:n.1372+72_1372+78delinsAGTTTAT
NM_024829.6:c.1372+72_1372+78delinsAGTTTAT MANE Select	NP_079105.4:n.1372+72_1372+78delinsAGTTTAT