Canonical Allele Identifier: CA1777240121

Gene: PLPBP

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.37772992_37772993delinsCA , CM000670.2:g.37772992_37772993delinsCA	GRCh38
NC_000008.10:g.37630510_37630511delinsCA , CM000670.1:g.37630510_37630511delinsCA	GRCh37
NC_000008.9:g.37749668_37749669delinsCA	NCBI36
NG_053030.1:g.16240_16241delinsCA

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328195.8:c.454+103_454+104delinsCA MANE Select	ENSP00000333551.3:n.454+103_454+104delinsCA
ENST00000328195.7:c.454+103_454+104delinsCA	ENSP00000333551.3:n.454+103_454+104delinsCA
ENST00000521631.1:n.137+103_137+104delinsCA
ENST00000523187.5:c.298+103_298+104delinsCA	ENSP00000427886.1:n.298+103_298+104delinsCA
ENST00000523521.1:c.211+103_211+104delinsCA	ENSP00000429425.1:n.211+103_211+104delinsCA
NM_007198.3:c.454+103_454+104delinsCA	NP_009129.1:n.454+103_454+104delinsCA
NM_001349346.1:c.454+103_454+104delinsCA	NP_001336275.1:n.454+103_454+104delinsCA
NM_001349347.1:c.448+103_448+104delinsCA	NP_001336276.1:n.448+103_448+104delinsCA
NM_001349348.1:c.298+103_298+104delinsCA	NP_001336277.1:n.298+103_298+104delinsCA
NM_007198.4:c.454+103_454+104delinsCA MANE Select	NP_009129.1:n.454+103_454+104delinsCA
NM_001349346.2:c.454+103_454+104delinsCA	NP_001336275.1:n.454+103_454+104delinsCA
NM_001349347.2:c.448+103_448+104delinsCA	NP_001336276.1:n.448+103_448+104delinsCA
NM_001349348.2:c.298+103_298+104delinsCA	NP_001336277.1:n.298+103_298+104delinsCA