Canonical Allele Identifier: CA2695235105

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785711_103785717dup , CM000685.2:g.103785711_103785717dup	GRCh38
NC_000023.10:g.103040640_103040646dup , CM000685.1:g.103040640_103040646dup	GRCh37
NC_000023.9:g.102927296_102927302dup	NCBI36
NG_008863.2:g.14201_14207dup
NG_016452.2:g.51566_51572dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000621218.5:c.134_140dup (PLP1) MANE Select	ENSP00000484450.1:p.Glu48AlafsTer3
ENST00000422393.5:c.134_140dup (PLP1)	ENSP00000413931.1:p.Glu48AlafsTer3
ENST00000433491.5:c.134_140dup (PLP1)	ENSP00000393391.1:p.Glu48AlafsTer3
ENST00000434483.5:c.134_140dup (PLP1)	ENSP00000403335.1:p.Glu48AlafsTer3
ENST00000443502.5:c.134_140dup (PLP1)	ENSP00000391853.1:p.Glu48AlafsTer3
ENST00000455268.5:c.134_140dup (PLP1)	ENSP00000409802.1:p.Glu48AlafsTer3
ENST00000464776.5:n.398_404dup (PLP1)
ENST00000465975.1:n.256_262dup (PLP1)
ENST00000479569.5:n.285_291dup (PLP1)
ENST00000480325.1:n.213_219dup (PLP1)
ENST00000485931.5:n.212_218dup (PLP1)
ENST00000494475.5:c.134_140dup (PLP1)	ENSP00000480409.1:p.Glu48AlafsTer3
ENST00000495678.5:n.436_442dup (PLP1)
ENST00000612423.4:c.134_140dup (PLP1)	ENSP00000481006.1:p.Glu48AlafsTer3
ENST00000619236.1:c.134_140dup (PLP1)	ENSP00000477619.1:p.Glu48AlafsTer3
ENST00000619257.4:n.364_370dup (PLP1)
ENST00000621218.4:c.134_140dup (PLP1)	ENSP00000484450.1:p.Glu48AlafsTer3
NM_000533.4:c.134_140dup (PLP1)	NP_000524.3:p.Glu48AlafsTer3
NM_001128834.2:c.134_140dup (PLP1)	NP_001122306.1:p.Glu48AlafsTer3
NM_001305004.1:c.5-36_5-30dup (PLP1)	NP_001291933.1:n.5-36_5-30dup
NM_199478.2:c.134_140dup (PLP1)	NP_955772.1:p.Glu48AlafsTer3
XR_244483.3:n.862+6964_862+6970dup
NR_146558.1:n.457+6964_457+6970dup (RAB9B)
NR_146560.1:n.743+6964_743+6970dup (RAB9B)
NM_000533.5:c.134_140dup (PLP1) MANE Select	NP_000524.3:p.Glu48AlafsTer3
NM_199478.3:c.134_140dup (PLP1)	NP_955772.1:p.Glu48AlafsTer3
NM_001128834.3:c.134_140dup (PLP1)	NP_001122306.1:p.Glu48AlafsTer3
NR_146558.2:n.432+6964_432+6970dup (RAB9B)
NR_146560.2:n.718+6964_718+6970dup (RAB9B)