Canonical Allele Identifier: CA2846168309

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37765486_37765487del , CM000670.2:g.37765486_37765487del	GRCh38
NC_000008.10:g.37623004_37623005del , CM000670.1:g.37623004_37623005del	GRCh37
NC_000008.9:g.37742162_37742163del	NCBI36
NG_053030.1:g.8734_8735del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.100-40_100-39del MANE Select	ENSP00000333551.3:n.100-40_100-39del
ENST00000328195.7:c.100-40_100-39del	ENSP00000333551.3:n.100-40_100-39del
ENST00000518036.5:c.100-40_100-39del	ENSP00000428005.1:n.100-40_100-39del
ENST00000520073.5:n.165-40_165-39del
ENST00000523187.5:c.-57-40_-57-39del	ENSP00000427886.1:n.-57-40_-57-39del
ENST00000523358.5:c.100-40_100-39del	ENSP00000427778.1:n.100-40_100-39del
ENST00000523994.1:n.105-40_105-39del
NM_007198.3:c.100-40_100-39del	NP_009129.1:n.100-40_100-39del
NM_001349346.1:c.100-40_100-39del	NP_001336275.1:n.100-40_100-39del
NM_001349347.1:c.100-40_100-39del	NP_001336276.1:n.100-40_100-39del
NM_001349348.1:c.-57-40_-57-39del	NP_001336277.1:n.-57-40_-57-39del
NM_001349349.1:c.205-40_205-39del	NP_001336278.1:n.205-40_205-39del
NM_007198.4:c.100-40_100-39del MANE Select	NP_009129.1:n.100-40_100-39del
NM_001349346.2:c.100-40_100-39del	NP_001336275.1:n.100-40_100-39del
NM_001349347.2:c.100-40_100-39del	NP_001336276.1:n.100-40_100-39del
NM_001349348.2:c.-57-40_-57-39del	NP_001336277.1:n.-57-40_-57-39del