Canonical Allele Identifier: CA2779755744
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765830del , CM000670.2:g.37765830del GRCh38
NC_000008.10:g.37623348del , CM000670.1:g.37623348del GRCh37
NC_000008.9:g.37742506del NCBI36
NG_053030.1:g.9078del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.243+84del MANE Select ENSP00000333551.3:n.243+84del
ENST00000328195.7:c.243+84del ENSP00000333551.3:n.243+84del
ENST00000518036.5:c.*95+84del ENSP00000428005.1:n.*95+84del
ENST00000520073.5:n.308+84del
ENST00000523187.5:c.87+84del ENSP00000427886.1:n.87+84del
ENST00000523358.5:c.243+84del ENSP00000427778.1:n.243+84del
ENST00000523994.1:n.248+84del
NM_007198.3:c.243+84del NP_009129.1:n.243+84del
NM_001349346.1:c.243+84del NP_001336275.1:n.243+84del
NM_001349347.1:c.237+84del NP_001336276.1:n.237+84del
NM_001349348.1:c.87+84del NP_001336277.1:n.87+84del
NM_001349349.1:c.348+84del NP_001336278.1:n.348+84del
NM_007198.4:c.243+84del MANE Select NP_009129.1:n.243+84del
NM_001349346.2:c.243+84del NP_001336275.1:n.243+84del
NM_001349347.2:c.237+84del NP_001336276.1:n.237+84del
NM_001349348.2:c.87+84del NP_001336277.1:n.87+84del