Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785688_103785696del , CM000685.2:g.103785688_103785696del	GRCh38
NC_000023.10:g.103040617_103040625del , CM000685.1:g.103040617_103040625del	GRCh37
NC_000023.9:g.102927273_102927281del	NCBI36
NG_008863.2:g.14178_14186del
NG_016452.2:g.51587_51595del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.111_119del (PLP1) MANE Select	ENSP00000484450.1:p.Glu38_Leu40del
ENST00000422393.5:c.111_119del (PLP1)	ENSP00000413931.1:p.Glu38_Leu40del
ENST00000433491.5:c.111_119del (PLP1)	ENSP00000393391.1:p.Glu38_Leu40del
ENST00000434483.5:c.111_119del (PLP1)	ENSP00000403335.1:p.Glu38_Leu40del
ENST00000443502.5:c.111_119del (PLP1)	ENSP00000391853.1:p.Glu38_Leu40del
ENST00000455268.5:c.111_119del (PLP1)	ENSP00000409802.1:p.Glu38_Leu40del
ENST00000464776.5:n.375_383del (PLP1)
ENST00000465975.1:n.233_241del (PLP1)
ENST00000479569.5:n.262_270del (PLP1)
ENST00000480325.1:n.190_198del (PLP1)
ENST00000485931.5:n.189_197del (PLP1)
ENST00000494475.5:c.111_119del (PLP1)	ENSP00000480409.1:p.Glu38_Leu40del
ENST00000495678.5:n.413_421del (PLP1)
ENST00000612423.4:c.111_119del (PLP1)	ENSP00000481006.1:p.Glu38_Leu40del
ENST00000619236.1:c.111_119del (PLP1)	ENSP00000477619.1:p.Glu38_Leu40del
ENST00000619257.4:n.341_349del (PLP1)
ENST00000621218.4:c.111_119del (PLP1)	ENSP00000484450.1:p.Glu38_Leu40del
NM_000533.4:c.111_119del (PLP1)	NP_000524.3:p.Glu38_Leu40del
NM_001128834.2:c.111_119del (PLP1)	NP_001122306.1:p.Glu38_Leu40del
NM_001305004.1:c.5-59_5-51del (PLP1)	NP_001291933.1:n.5-59_5-51del
NM_199478.2:c.111_119del (PLP1)	NP_955772.1:p.Glu38_Leu40del
XR_244483.3:n.862+6985_862+6993del
NR_146558.1:n.457+6985_457+6993del (RAB9B)
NR_146560.1:n.743+6985_743+6993del (RAB9B)
NM_000533.5:c.111_119del (PLP1) MANE Select	NP_000524.3:p.Glu38_Leu40del
NM_199478.3:c.111_119del (PLP1)	NP_955772.1:p.Glu38_Leu40del
NM_001128834.3:c.111_119del (PLP1)	NP_001122306.1:p.Glu38_Leu40del
NR_146558.2:n.432+6985_432+6993del (RAB9B)
NR_146560.2:n.718+6985_718+6993del (RAB9B)