Canonical Allele Identifier: CA851407297

Gene: PLPBP

Linked Data

• dbSNP Id: rs1191797659
• MyVariant Identifiers: chr8:g.37623026_37623064del (hg19) ; chr8:g.37765508_37765546del (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765509_37765547del , CM000670.2:g.37765509_37765547del	GRCh38
NC_000008.10:g.37623027_37623065del , CM000670.1:g.37623027_37623065del	GRCh37
NC_000008.9:g.37742185_37742223del	NCBI36
NG_053030.1:g.8757_8795del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.100-17_121del
ENST00000328195.7:c.100-17_121del
ENST00000518036.5:c.100-17_121del
ENST00000520073.5:n.165-17_186del
ENST00000523187.5:c.-57-17_-36del
ENST00000523358.5:c.100-17_121del
ENST00000523994.1:n.105-17_126del
NM_007198.3:c.100-17_121del
NM_001349346.1:c.100-17_121del
NM_001349347.1:c.100-17_121del
NM_001349348.1:c.-57-17_-36del
NM_001349349.1:c.205-17_226del
NM_007198.4:c.100-17_121del
NM_001349346.2:c.100-17_121del
NM_001349347.2:c.100-17_121del
NM_001349348.2:c.-57-17_-36del