Canonical Allele Identifier: CA2579141900
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765479del , CM000670.2:g.37765479del GRCh38
NC_000008.10:g.37622997del , CM000670.1:g.37622997del GRCh37
NC_000008.9:g.37742155del NCBI36
NG_053030.1:g.8727del

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.100-47del MANE Select ENSP00000333551.3:n.100-47del
ENST00000328195.7:c.100-47del ENSP00000333551.3:n.100-47del
ENST00000518036.5:c.100-47del ENSP00000428005.1:n.100-47del
ENST00000520073.5:n.165-47del
ENST00000523187.5:c.-57-47del ENSP00000427886.1:n.-57-47del
ENST00000523358.5:c.100-47del ENSP00000427778.1:n.100-47del
ENST00000523994.1:n.105-47del
NM_007198.3:c.100-47del NP_009129.1:n.100-47del
NM_001349346.1:c.100-47del NP_001336275.1:n.100-47del
NM_001349347.1:c.100-47del NP_001336276.1:n.100-47del
NM_001349348.1:c.-57-47del NP_001336277.1:n.-57-47del
NM_001349349.1:c.205-47del NP_001336278.1:n.205-47del
NM_007198.4:c.100-47del MANE Select NP_009129.1:n.100-47del
NM_001349346.2:c.100-47del NP_001336275.1:n.100-47del
NM_001349347.2:c.100-47del NP_001336276.1:n.100-47del
NM_001349348.2:c.-57-47del NP_001336277.1:n.-57-47del