Canonical Allele Identifier: CA2580100113

Gene: PLP1 RAB9B

Linked Data

• ClinVar Variation Id: 1932099
• ClinVar RCV Id: RCV002622394

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785719_103785729del , CM000685.2:g.103785719_103785729del	GRCh38
NC_000023.10:g.103040648_103040658del , CM000685.1:g.103040648_103040658del	GRCh37
NC_000023.9:g.102927304_102927314del	NCBI36
NG_008863.2:g.14209_14219del
NG_016452.2:g.51556_51566del

Transcript Alleles

HGVS	Amino-acid change
ENST00000621218.5:c.142_152del (PLP1) MANE Select	ENSP00000484450.1:p.Glu48LeufsTer8
ENST00000422393.5:c.142_152del (PLP1)	ENSP00000413931.1:p.Glu48LeufsTer8
ENST00000433491.5:c.142_152del (PLP1)	ENSP00000393391.1:p.Glu48LeufsTer8
ENST00000434483.5:c.142_152del (PLP1)	ENSP00000403335.1:p.Glu48LeufsTer8
ENST00000443502.5:c.142_152del (PLP1)	ENSP00000391853.1:p.Glu48LeufsTer8
ENST00000455268.5:c.142_152del (PLP1)	ENSP00000409802.1:p.Glu48LeufsTer8
ENST00000464776.5:n.406_416del (PLP1)
ENST00000465975.1:n.264_274del (PLP1)
ENST00000479569.5:n.293_303del (PLP1)
ENST00000480325.1:n.221_231del (PLP1)
ENST00000485931.5:n.220_230del (PLP1)
ENST00000494475.5:c.142_152del (PLP1)	ENSP00000480409.1:p.Glu48LeufsTer8
ENST00000495678.5:n.444_454del (PLP1)
ENST00000612423.4:c.142_152del (PLP1)	ENSP00000481006.1:p.Glu48LeufsTer8
ENST00000619236.1:c.142_152del (PLP1)	ENSP00000477619.1:p.Glu48LeufsTer8
ENST00000619257.4:n.372_382del (PLP1)
ENST00000621218.4:c.142_152del (PLP1)	ENSP00000484450.1:p.Glu48LeufsTer8
NM_000533.4:c.142_152del (PLP1)	NP_000524.3:p.Glu48LeufsTer8
NM_001128834.2:c.142_152del (PLP1)	NP_001122306.1:p.Glu48LeufsTer8
NM_001305004.1:c.5-28_5-18del (PLP1)	NP_001291933.1:n.5-28_5-18del
NM_199478.2:c.142_152del (PLP1)	NP_955772.1:p.Glu48LeufsTer8
XR_244483.3:n.862+6954_862+6964del
NR_146558.1:n.457+6954_457+6964del (RAB9B)
NR_146560.1:n.743+6954_743+6964del (RAB9B)
NM_000533.5:c.142_152del (PLP1) MANE Select	NP_000524.3:p.Glu48LeufsTer8
NM_199478.3:c.142_152del (PLP1)	NP_955772.1:p.Glu48LeufsTer8
NM_001128834.3:c.142_152del (PLP1)	NP_001122306.1:p.Glu48LeufsTer8
NR_146558.2:n.432+6954_432+6964del (RAB9B)
NR_146560.2:n.718+6954_718+6964del (RAB9B)