Canonical Allele Identifier: CA1777236733
Gene: PLPBP HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000008.11:g.37765272_37765274delinsTGA , CM000670.2:g.37765272_37765274delinsTGA GRCh38
NC_000008.10:g.37622790_37622792delinsTGA , CM000670.1:g.37622790_37622792delinsTGA GRCh37
NC_000008.9:g.37741948_37741950delinsTGA NCBI36
NG_053030.1:g.8520_8522delinsTGA

Transcript Alleles

HGVS Amino-acid Change
ENST00000328195.8:c.100-254_100-252delinsTGA MANE Select ENSP00000333551.3:n.100-254_100-252delinsTGA
ENST00000328195.7:c.100-254_100-252delinsTGA ENSP00000333551.3:n.100-254_100-252delinsTGA
ENST00000518036.5:c.100-254_100-252delinsTGA ENSP00000428005.1:n.100-254_100-252delinsTGA
ENST00000520073.5:n.165-254_165-252delinsTGA
ENST00000523187.5:c.-57-254_-57-252delinsTGA ENSP00000427886.1:n.-57-254_-57-252delinsTGA
ENST00000523358.5:c.100-254_100-252delinsTGA ENSP00000427778.1:n.100-254_100-252delinsTGA
ENST00000523994.1:n.105-254_105-252delinsTGA
NM_007198.3:c.100-254_100-252delinsTGA NP_009129.1:n.100-254_100-252delinsTGA
NM_001349346.1:c.100-254_100-252delinsTGA NP_001336275.1:n.100-254_100-252delinsTGA
NM_001349347.1:c.100-254_100-252delinsTGA NP_001336276.1:n.100-254_100-252delinsTGA
NM_001349348.1:c.-57-254_-57-252delinsTGA NP_001336277.1:n.-57-254_-57-252delinsTGA
NM_001349349.1:c.205-254_205-252delinsTGA NP_001336278.1:n.205-254_205-252delinsTGA
NM_007198.4:c.100-254_100-252delinsTGA MANE Select NP_009129.1:n.100-254_100-252delinsTGA
NM_001349346.2:c.100-254_100-252delinsTGA NP_001336275.1:n.100-254_100-252delinsTGA
NM_001349347.2:c.100-254_100-252delinsTGA NP_001336276.1:n.100-254_100-252delinsTGA
NM_001349348.2:c.-57-254_-57-252delinsTGA NP_001336277.1:n.-57-254_-57-252delinsTGA