Canonical Allele Identifier: CA2580100124

Gene: PLP1 RAB9B

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.103789390del , CM000685.2:g.103789390del	GRCh38
NC_000023.10:g.103044319del , CM000685.1:g.103044319del	GRCh37
NC_000023.9:g.102930975del	NCBI36
NG_008863.2:g.17880del
NG_016452.2:g.47894del

Transcript Alleles

HGVS	Amino-acid Change
NM_000533.5:c.754del (PLP1) MANE Select	NP_000524.3:p.Val252PhefsTer7
ENST00000621218.5:c.754del (PLP1) MANE Select	ENSP00000484450.1:p.Val252PhefsTer7
NM_000533.4:c.754del (PLP1)	NP_000524.3:p.Val252PhefsTer7
NM_001128834.2:c.754del (PLP1)	NP_001122306.1:p.Val252PhefsTer7
NM_001128834.3:c.754del (PLP1)	NP_001122306.1:p.Val252PhefsTer7
NM_001305004.1:c.589del (PLP1)	NP_001291933.1:p.Val197PhefsTer7
NM_199478.2:c.649del (PLP1)	NP_955772.1:p.Val217PhefsTer7
NM_199478.3:c.649del (PLP1)	NP_955772.1:p.Val217PhefsTer7
NR_146558.1:n.457+3292del (RAB9B)
NR_146558.2:n.432+3292del (RAB9B)
NR_146560.1:n.743+3292del (RAB9B)
NR_146560.2:n.718+3292del (RAB9B)
ENST00000466486.1:n.590del (PLP1)
ENST00000485688.5:n.491del (PLP1)
ENST00000496836.1:n.484del (PLP1)
ENST00000612423.4:c.754del (PLP1)	ENSP00000481006.1:p.Val252PhefsTer7
ENST00000619236.1:c.649del (PLP1)	ENSP00000477619.1:p.Val217PhefsTer7
ENST00000621218.4:c.754del (PLP1)	ENSP00000484450.1:p.Val252PhefsTer7
XR_244483.3:n.862+3292del