Canonical Allele Identifier: CA2716950028

Gene: PLPBP

Linked Data

• dbSNP Id: rs2129776381

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37766050_37766051del , CM000670.2:g.37766050_37766051del	GRCh38
NC_000008.10:g.37623568_37623569del , CM000670.1:g.37623568_37623569del	GRCh37
NC_000008.9:g.37742726_37742727del	NCBI36
NG_053030.1:g.9298_9299del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.244-230_244-229del MANE Select	ENSP00000333551.3:n.244-230_244-229del
ENST00000328195.7:c.244-230_244-229del	ENSP00000333551.3:n.244-230_244-229del
ENST00000518036.5:c.*96-230_*96-229del	ENSP00000428005.1:n.*96-230_*96-229del
ENST00000520073.5:n.309-230_309-229del
ENST00000523187.5:c.88-230_88-229del	ENSP00000427886.1:n.88-230_88-229del
ENST00000523358.5:c.244-230_244-229del	ENSP00000427778.1:n.244-230_244-229del
ENST00000523994.1:n.249-230_249-229del
NM_007198.3:c.244-230_244-229del	NP_009129.1:n.244-230_244-229del
NM_001349346.1:c.244-230_244-229del	NP_001336275.1:n.244-230_244-229del
NM_001349347.1:c.238-230_238-229del	NP_001336276.1:n.238-230_238-229del
NM_001349348.1:c.88-230_88-229del	NP_001336277.1:n.88-230_88-229del
NM_001349349.1:c.349-230_349-229del	NP_001336278.1:n.349-230_349-229del
NM_007198.4:c.244-230_244-229del MANE Select	NP_009129.1:n.244-230_244-229del
NM_001349346.2:c.244-230_244-229del	NP_001336275.1:n.244-230_244-229del
NM_001349347.2:c.238-230_238-229del	NP_001336276.1:n.238-230_238-229del
NM_001349348.2:c.88-230_88-229del	NP_001336277.1:n.88-230_88-229del