Canonical Allele Identifier: CA2695235103

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785683_103785685del , CM000685.2:g.103785683_103785685del	GRCh38
NC_000023.10:g.103040612_103040614del , CM000685.1:g.103040612_103040614del	GRCh37
NC_000023.9:g.102927268_102927270del	NCBI36
NG_008863.2:g.14173_14175del
NG_016452.2:g.51598_51600del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.106_108del (PLP1) MANE Select	ENSP00000484450.1:p.Gly36del
ENST00000422393.5:c.106_108del (PLP1)	ENSP00000413931.1:p.Gly36del
ENST00000433491.5:c.106_108del (PLP1)	ENSP00000393391.1:p.Gly36del
ENST00000434483.5:c.106_108del (PLP1)	ENSP00000403335.1:p.Gly36del
ENST00000443502.5:c.106_108del (PLP1)	ENSP00000391853.1:p.Gly36del
ENST00000455268.5:c.106_108del (PLP1)	ENSP00000409802.1:p.Gly36del
ENST00000464776.5:n.370_372del (PLP1)
ENST00000465975.1:n.228_230del (PLP1)
ENST00000479569.5:n.257_259del (PLP1)
ENST00000480325.1:n.185_187del (PLP1)
ENST00000485931.5:n.184_186del (PLP1)
ENST00000494475.5:c.106_108del (PLP1)	ENSP00000480409.1:p.Gly36del
ENST00000495678.5:n.408_410del (PLP1)
ENST00000612423.4:c.106_108del (PLP1)	ENSP00000481006.1:p.Gly36del
ENST00000619236.1:c.106_108del (PLP1)	ENSP00000477619.1:p.Gly36del
ENST00000619257.4:n.336_338del (PLP1)
ENST00000621218.4:c.106_108del (PLP1)	ENSP00000484450.1:p.Gly36del
NM_000533.4:c.106_108del (PLP1)	NP_000524.3:p.Gly36del
NM_001128834.2:c.106_108del (PLP1)	NP_001122306.1:p.Gly36del
NM_001305004.1:c.5-64_5-62del (PLP1)	NP_001291933.1:n.5-64_5-62del
NM_199478.2:c.106_108del (PLP1)	NP_955772.1:p.Gly36del
XR_244483.3:n.862+6996_862+6998del
NR_146558.1:n.457+6996_457+6998del (RAB9B)
NR_146560.1:n.743+6996_743+6998del (RAB9B)
NM_000533.5:c.106_108del (PLP1) MANE Select	NP_000524.3:p.Gly36del
NM_199478.3:c.106_108del (PLP1)	NP_955772.1:p.Gly36del
NM_001128834.3:c.106_108del (PLP1)	NP_001122306.1:p.Gly36del
NR_146558.2:n.432+6996_432+6998del (RAB9B)
NR_146560.2:n.718+6996_718+6998del (RAB9B)