Canonical Allele Identifier: CA1777236740
Gene: PLPBP HGNC NCBI

Linked Data

dbSNP Id: rs1803593720

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765286_37765287insCTT , CM000670.2:g.37765286_37765287insCTT GRCh38
NC_000008.10:g.37622804_37622805insCTT , CM000670.1:g.37622804_37622805insCTT GRCh37
NC_000008.9:g.37741962_37741963insCTT NCBI36
NG_053030.1:g.8534_8535insCTT

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.100-240_100-239insCTT MANE Select ENSP00000333551.3:n.100-240_100-239insCTT
ENST00000328195.7:c.100-240_100-239insCTT ENSP00000333551.3:n.100-240_100-239insCTT
ENST00000518036.5:c.100-240_100-239insCTT ENSP00000428005.1:n.100-240_100-239insCTT
ENST00000520073.5:n.165-240_165-239insCTT
ENST00000523187.5:c.-57-240_-57-239insCTT ENSP00000427886.1:n.-57-240_-57-239insCTT
ENST00000523358.5:c.100-240_100-239insCTT ENSP00000427778.1:n.100-240_100-239insCTT
ENST00000523994.1:n.105-240_105-239insCTT
NM_007198.3:c.100-240_100-239insCTT NP_009129.1:n.100-240_100-239insCTT
NM_001349346.1:c.100-240_100-239insCTT NP_001336275.1:n.100-240_100-239insCTT
NM_001349347.1:c.100-240_100-239insCTT NP_001336276.1:n.100-240_100-239insCTT
NM_001349348.1:c.-57-240_-57-239insCTT NP_001336277.1:n.-57-240_-57-239insCTT
NM_001349349.1:c.205-240_205-239insCTT NP_001336278.1:n.205-240_205-239insCTT
NM_007198.4:c.100-240_100-239insCTT MANE Select NP_009129.1:n.100-240_100-239insCTT
NM_001349346.2:c.100-240_100-239insCTT NP_001336275.1:n.100-240_100-239insCTT
NM_001349347.2:c.100-240_100-239insCTT NP_001336276.1:n.100-240_100-239insCTT
NM_001349348.2:c.-57-240_-57-239insCTT NP_001336277.1:n.-57-240_-57-239insCTT