Canonical Allele Identifier: CA460359015

Gene: PLPBP

Linked Data

• COSMIC: COSM1456829
• MyVariant Identifiers: chr8:g.37623245del (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765731del , CM000670.2:g.37765731del	GRCh38
NC_000008.10:g.37623249del , CM000670.1:g.37623249del	GRCh37
NC_000008.9:g.37742407del	NCBI36
NG_053030.1:g.8979del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.228del MANE Select	ENSP00000333551.3:p.Ala77HisfsTer29
ENST00000328195.7:c.228del	ENSP00000333551.3:p.Ala77HisfsTer29
ENST00000518036.5:c.*80del	ENSP00000428005.1:n.*80del
ENST00000520073.5:n.293del
ENST00000523187.5:c.72del	ENSP00000427886.1:p.Ala25HisfsTer29
ENST00000523358.5:c.228del	ENSP00000427778.1:p.Ala77HisfsTer29
ENST00000523994.1:n.233del
NM_007198.3:c.228del	NP_009129.1:p.Ala77HisfsTer29
NM_001349346.1:c.228del	NP_001336275.1:p.Ala77HisfsTer29
NM_001349347.1:c.222del	NP_001336276.1:p.Ala75HisfsTer29
NM_001349348.1:c.72del	NP_001336277.1:p.Ala25HisfsTer29
NM_001349349.1:c.333del	NP_001336278.1:p.Ala112HisfsTer29
NM_007198.4:c.228del MANE Select	NP_009129.1:p.Ala77HisfsTer29
NM_001349346.2:c.228del	NP_001336275.1:p.Ala77HisfsTer29
NM_001349347.2:c.222del	NP_001336276.1:p.Ala75HisfsTer29
NM_001349348.2:c.72del	NP_001336277.1:p.Ala25HisfsTer29