Canonical Allele Identifier: CA2822761478

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785273_103785274del , CM000685.2:g.103785273_103785274del	GRCh38
NC_000023.10:g.103040202_103040203del , CM000685.1:g.103040202_103040203del	GRCh37
NC_000023.9:g.102926858_102926859del	NCBI36
NG_008863.2:g.13763_13764del
NG_016452.2:g.52009_52010del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.5-309_5-308del (PLP1) MANE Select	ENSP00000484450.1:n.5-309_5-308del
ENST00000422393.5:c.5-309_5-308del (PLP1)	ENSP00000413931.1:n.5-309_5-308del
ENST00000433491.5:c.5-309_5-308del (PLP1)	ENSP00000393391.1:n.5-309_5-308del
ENST00000434483.5:c.5-309_5-308del (PLP1)	ENSP00000403335.1:n.5-309_5-308del
ENST00000443502.5:c.5-309_5-308del (PLP1)	ENSP00000391853.1:n.5-309_5-308del
ENST00000455268.5:c.5-309_5-308del (PLP1)	ENSP00000409802.1:n.5-309_5-308del
ENST00000464776.5:n.269-309_269-308del (PLP1)
ENST00000465975.1:n.127-309_127-308del (PLP1)
ENST00000479569.5:n.156-309_156-308del (PLP1)
ENST00000480325.1:n.84-309_84-308del (PLP1)
ENST00000485931.5:n.83-309_83-308del (PLP1)
ENST00000494475.5:c.5-309_5-308del (PLP1)	ENSP00000480409.1:n.5-309_5-308del
ENST00000495678.5:n.307-309_307-308del (PLP1)
ENST00000612423.4:c.5-309_5-308del (PLP1)	ENSP00000481006.1:n.5-309_5-308del
ENST00000619236.1:c.5-309_5-308del (PLP1)	ENSP00000477619.1:n.5-309_5-308del
ENST00000619257.4:n.235-309_235-308del (PLP1)
ENST00000621218.4:c.5-309_5-308del (PLP1)	ENSP00000484450.1:n.5-309_5-308del
NM_000533.4:c.5-309_5-308del (PLP1)	NP_000524.3:n.5-309_5-308del
NM_001128834.2:c.5-309_5-308del (PLP1)	NP_001122306.1:n.5-309_5-308del
NM_001305004.1:c.5-474_5-473del (PLP1)	NP_001291933.1:n.5-474_5-473del
NM_199478.2:c.5-309_5-308del (PLP1)	NP_955772.1:n.5-309_5-308del
XR_244483.3:n.862+7407_862+7408del
NR_146558.1:n.457+7407_457+7408del (RAB9B)
NR_146560.1:n.743+7407_743+7408del (RAB9B)
NM_000533.5:c.5-309_5-308del (PLP1) MANE Select	NP_000524.3:n.5-309_5-308del
NM_199478.3:c.5-309_5-308del (PLP1)	NP_955772.1:n.5-309_5-308del
NM_001128834.3:c.5-309_5-308del (PLP1)	NP_001122306.1:n.5-309_5-308del
NR_146558.2:n.432+7407_432+7408del (RAB9B)
NR_146560.2:n.718+7407_718+7408del (RAB9B)