Canonical Allele Identifier: CA2686899629

Gene: PLPBP

Linked Data

• gnomAD v4: 8-37765782-A-ATG

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765782_37765783insTG , CM000670.2:g.37765782_37765783insTG	GRCh38
NC_000008.10:g.37623300_37623301insTG , CM000670.1:g.37623300_37623301insTG	GRCh37
NC_000008.9:g.37742458_37742459insTG	NCBI36
NG_053030.1:g.9030_9031insTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+36_243+37insTG MANE Select	ENSP00000333551.3:n.243+36_243+37insTG
ENST00000328195.7:c.243+36_243+37insTG	ENSP00000333551.3:n.243+36_243+37insTG
ENST00000518036.5:c.*95+36_*95+37insTG	ENSP00000428005.1:n.*95+36_*95+37insTG
ENST00000520073.5:n.308+36_308+37insTG
ENST00000523187.5:c.87+36_87+37insTG	ENSP00000427886.1:n.87+36_87+37insTG
ENST00000523358.5:c.243+36_243+37insTG	ENSP00000427778.1:n.243+36_243+37insTG
ENST00000523994.1:n.248+36_248+37insTG
NM_007198.3:c.243+36_243+37insTG	NP_009129.1:n.243+36_243+37insTG
NM_001349346.1:c.243+36_243+37insTG	NP_001336275.1:n.243+36_243+37insTG
NM_001349347.1:c.237+36_237+37insTG	NP_001336276.1:n.237+36_237+37insTG
NM_001349348.1:c.87+36_87+37insTG	NP_001336277.1:n.87+36_87+37insTG
NM_001349349.1:c.348+36_348+37insTG	NP_001336278.1:n.348+36_348+37insTG
NM_007198.4:c.243+36_243+37insTG MANE Select	NP_009129.1:n.243+36_243+37insTG
NM_001349346.2:c.243+36_243+37insTG	NP_001336275.1:n.243+36_243+37insTG
NM_001349347.2:c.237+36_237+37insTG	NP_001336276.1:n.237+36_237+37insTG
NM_001349348.2:c.87+36_87+37insTG	NP_001336277.1:n.87+36_87+37insTG