Canonical Allele Identifier: CA2017888290

Gene: PLBD1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.14506885_14506890delinsGAAGAA , CM000674.2:g.14506885_14506890delinsGAAGAA	GRCh38
NC_000012.11:g.14659819_14659824delinsGAAGAA , CM000674.1:g.14659819_14659824delinsGAAGAA	GRCh37
NC_000012.10:g.14551086_14551091delinsGAAGAA	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000240617.10:c.1372+43_1372+48delinsTTCTTC MANE Select	ENSP00000240617.5:n.1372+43_1372+48delinsTTCTTC
ENST00000240617.9:c.1372+43_1372+48delinsTTCTTC	ENSP00000240617.5:n.1372+43_1372+48delinsTTCTTC
NM_024829.5:c.1372+43_1372+48delinsTTCTTC	NP_079105.4:n.1372+43_1372+48delinsTTCTTC
NM_024829.6:c.1372+43_1372+48delinsTTCTTC MANE Select	NP_079105.4:n.1372+43_1372+48delinsTTCTTC