Canonical Allele Identifier: CA1777237020

Gene: PLPBP

Linked Data

• dbSNP Id: rs1803615199

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765942_37765944del , CM000670.2:g.37765942_37765944del	GRCh38
NC_000008.10:g.37623460_37623462del , CM000670.1:g.37623460_37623462del	GRCh37
NC_000008.9:g.37742618_37742620del	NCBI36
NG_053030.1:g.9190_9192del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.243+196_243+198del MANE Select	ENSP00000333551.3:n.243+196_243+198del
ENST00000328195.7:c.243+196_243+198del	ENSP00000333551.3:n.243+196_243+198del
ENST00000518036.5:c.*95+196_*95+198del	ENSP00000428005.1:n.*95+196_*95+198del
ENST00000520073.5:n.308+196_308+198del
ENST00000523187.5:c.87+196_87+198del	ENSP00000427886.1:n.87+196_87+198del
ENST00000523358.5:c.243+196_243+198del	ENSP00000427778.1:n.243+196_243+198del
ENST00000523994.1:n.248+196_248+198del
NM_007198.3:c.243+196_243+198del	NP_009129.1:n.243+196_243+198del
NM_001349346.1:c.243+196_243+198del	NP_001336275.1:n.243+196_243+198del
NM_001349347.1:c.237+196_237+198del	NP_001336276.1:n.237+196_237+198del
NM_001349348.1:c.87+196_87+198del	NP_001336277.1:n.87+196_87+198del
NM_001349349.1:c.348+196_348+198del	NP_001336278.1:n.348+196_348+198del
NM_007198.4:c.243+196_243+198del MANE Select	NP_009129.1:n.243+196_243+198del
NM_001349346.2:c.243+196_243+198del	NP_001336275.1:n.243+196_243+198del
NM_001349347.2:c.237+196_237+198del	NP_001336276.1:n.237+196_237+198del
NM_001349348.2:c.87+196_87+198del	NP_001336277.1:n.87+196_87+198del