Canonical Allele Identifier: CA2686899738

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765862-T-TG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765865dup , CM000670.2:g.37765865dup	GRCh38
NC_000008.10:g.37623383dup , CM000670.1:g.37623383dup	GRCh37
NC_000008.9:g.37742541dup	NCBI36
NG_053030.1:g.9113dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+119dup MANE Select	ENSP00000333551.3:n.243+119dup
ENST00000328195.7:c.243+119dup	ENSP00000333551.3:n.243+119dup
ENST00000518036.5:c.*95+119dup	ENSP00000428005.1:n.*95+119dup
ENST00000520073.5:n.308+119dup
ENST00000523187.5:c.87+119dup	ENSP00000427886.1:n.87+119dup
ENST00000523358.5:c.243+119dup	ENSP00000427778.1:n.243+119dup
ENST00000523994.1:n.248+119dup
NM_007198.3:c.243+119dup	NP_009129.1:n.243+119dup
NM_001349346.1:c.243+119dup	NP_001336275.1:n.243+119dup
NM_001349347.1:c.237+119dup	NP_001336276.1:n.237+119dup
NM_001349348.1:c.87+119dup	NP_001336277.1:n.87+119dup
NM_001349349.1:c.348+119dup	NP_001336278.1:n.348+119dup
NM_007198.4:c.243+119dup MANE Select	NP_009129.1:n.243+119dup
NM_001349346.2:c.243+119dup	NP_001336275.1:n.243+119dup
NM_001349347.2:c.237+119dup	NP_001336276.1:n.237+119dup
NM_001349348.2:c.87+119dup	NP_001336277.1:n.87+119dup