Canonical Allele Identifier: CA658799832
Gene: PLP1 HGNC NCBI
RAB9B HGNC NCBI

Linked Data

ClinVar Variation Id: 431701
ClinVar RCV Id: RCV000655935
dbSNP Id: rs1556267215
MyVariant Identifiers: chrX:g.103041586_103041595del (hg19) chrX:g.103786657_103786666del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.103786657_103786666del , CM000685.2:g.103786657_103786666del GRCh38
NC_000023.10:g.103041586_103041595del , CM000685.1:g.103041586_103041595del GRCh37
NC_000023.9:g.102928242_102928251del NCBI36
NG_008863.2:g.15147_15156del
NG_016452.2:g.50617_50626del

Transcript Alleles

HGVS Amino-acid Change
ENST00000621218.5:c.384_393del (PLP1) MANE Select ENSP00000484450.1:p.Gln129LeufsTer15
ENST00000455268.5:c.384_393del (PLP1) ENSP00000409802.1:p.Gln129LeufsTer?
ENST00000461231.5:n.264+36_264+45del (PLP1)
ENST00000465975.1:n.312-70_312-61del (PLP1)
ENST00000476160.1:n.363_372del (PLP1)
ENST00000478642.5:n.365_374del (PLP1)
ENST00000479569.5:n.499+36_499+45del (PLP1)
ENST00000485688.5:n.190+36_190+45del (PLP1)
ENST00000485931.5:n.462_471del (PLP1)
ENST00000494475.5:c.384_393del (PLP1) ENSP00000480409.1:p.Gln129LeufsTer?
ENST00000612423.4:c.384_393del (PLP1) ENSP00000481006.1:p.Gln129LeufsTer15
ENST00000619236.1:c.348+36_348+45del (PLP1) ENSP00000477619.1:n.348+36_348+45del
ENST00000621218.4:c.384_393del (PLP1) ENSP00000484450.1:p.Gln129LeufsTer15
NM_000533.4:c.384_393del (PLP1) NP_000524.3:p.Gln129LeufsTer15
NM_001128834.2:c.384_393del (PLP1) NP_001122306.1:p.Gln129LeufsTer15
NM_001305004.1:c.219_228del (PLP1) NP_001291933.1:p.Gln74LeufsTer15
NM_199478.2:c.348+36_348+45del (PLP1) NP_955772.1:n.348+36_348+45del
XR_244483.3:n.862+6015_862+6024del
NR_146558.1:n.457+6015_457+6024del (RAB9B)
NR_146560.1:n.743+6015_743+6024del (RAB9B)
NM_000533.5:c.384_393del (PLP1) MANE Select NP_000524.3:p.Gln129LeufsTer15
NM_199478.3:c.348+36_348+45del (PLP1) NP_955772.1:n.348+36_348+45del
NM_001128834.3:c.384_393del (PLP1) NP_001122306.1:p.Gln129LeufsTer15
NR_146558.2:n.432+6015_432+6024del (RAB9B)
NR_146560.2:n.718+6015_718+6024del (RAB9B)
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