Canonical Allele Identifier: CA2449052723

Gene: PLP1 RAB9B

Linked Data

• dbSNP Id: rs2074488008
• gnomAD v4: X-103785566-CCTT-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103785574_103785576del , CM000685.2:g.103785574_103785576del	GRCh38
NC_000023.10:g.103040503_103040505del , CM000685.1:g.103040503_103040505del	GRCh37
NC_000023.9:g.102927159_102927161del	NCBI36
NG_008863.2:g.14064_14066del
NG_016452.2:g.51714_51716del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000621218.5:c.5-8_5-6del (PLP1) MANE Select	ENSP00000484450.1:n.5-8_5-6del
ENST00000422393.5:c.5-8_5-6del (PLP1)	ENSP00000413931.1:n.5-8_5-6del
ENST00000433491.5:c.5-8_5-6del (PLP1)	ENSP00000393391.1:n.5-8_5-6del
ENST00000434483.5:c.5-8_5-6del (PLP1)	ENSP00000403335.1:n.5-8_5-6del
ENST00000443502.5:c.5-8_5-6del (PLP1)	ENSP00000391853.1:n.5-8_5-6del
ENST00000455268.5:c.5-8_5-6del (PLP1)	ENSP00000409802.1:n.5-8_5-6del
ENST00000464776.5:n.269-8_269-6del (PLP1)
ENST00000465975.1:n.127-8_127-6del (PLP1)
ENST00000479569.5:n.156-8_156-6del (PLP1)
ENST00000480325.1:n.84-8_84-6del (PLP1)
ENST00000485931.5:n.83-8_83-6del (PLP1)
ENST00000494475.5:c.5-8_5-6del (PLP1)	ENSP00000480409.1:n.5-8_5-6del
ENST00000495678.5:n.307-8_307-6del (PLP1)
ENST00000612423.4:c.5-8_5-6del (PLP1)	ENSP00000481006.1:n.5-8_5-6del
ENST00000619236.1:c.5-8_5-6del (PLP1)	ENSP00000477619.1:n.5-8_5-6del
ENST00000619257.4:n.235-8_235-6del (PLP1)
ENST00000621218.4:c.5-8_5-6del (PLP1)	ENSP00000484450.1:n.5-8_5-6del
NM_000533.4:c.5-8_5-6del (PLP1)	NP_000524.3:n.5-8_5-6del
NM_001128834.2:c.5-8_5-6del (PLP1)	NP_001122306.1:n.5-8_5-6del
NM_001305004.1:c.5-173_5-171del (PLP1)	NP_001291933.1:n.5-173_5-171del
NM_199478.2:c.5-8_5-6del (PLP1)	NP_955772.1:n.5-8_5-6del
XR_244483.3:n.862+7112_862+7114del
NR_146558.1:n.457+7112_457+7114del (RAB9B)
NR_146560.1:n.743+7112_743+7114del (RAB9B)
NM_000533.5:c.5-8_5-6del (PLP1) MANE Select	NP_000524.3:n.5-8_5-6del
NM_199478.3:c.5-8_5-6del (PLP1)	NP_955772.1:n.5-8_5-6del
NM_001128834.3:c.5-8_5-6del (PLP1)	NP_001122306.1:n.5-8_5-6del
NR_146558.2:n.432+7112_432+7114del (RAB9B)
NR_146560.2:n.718+7112_718+7114del (RAB9B)