Linked Data
dbSNP Id:
rs1440606102
gnomAD v3:
X-103785837-C-CTTCA
gnomAD v4:
X-103785837-C-CTTCA
MyVariant Identifiers:
chrX:g.103040766_103040767insTTCA (hg19)
chrX:g.103785837_103785838insTTCA (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.103785838_103785841dup , CM000685.2:g.103785838_103785841dup | GRCh38 |
| NC_000023.10:g.103040767_103040770dup , CM000685.1:g.103040767_103040770dup | GRCh37 |
| NC_000023.9:g.102927423_102927426dup | NCBI36 |
| NG_008863.2:g.14328_14331dup | |
| NG_016452.2:g.51442_51445dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000621218.5:c.191+70_191+73dup (PLP1) MANE Select | ENSP00000484450.1:n.191+70_191+73dup | |
| ENST00000422393.5:c.191+70_191+73dup (PLP1) | ENSP00000413931.1:n.191+70_191+73dup | |
| ENST00000433491.5:c.191+70_191+73dup (PLP1) | ENSP00000393391.1:n.191+70_191+73dup | |
| ENST00000434483.5:c.191+70_191+73dup (PLP1) | ENSP00000403335.1:n.191+70_191+73dup | |
| ENST00000443502.5:c.191+70_191+73dup (PLP1) | ENSP00000391853.1:n.191+70_191+73dup | |
| ENST00000455268.5:c.191+70_191+73dup (PLP1) | ENSP00000409802.1:n.191+70_191+73dup | |
| ENST00000464776.5:n.455+70_455+73dup (PLP1) | ||
| ENST00000465975.1:n.311+72_311+75dup (PLP1) | ||
| ENST00000479569.5:n.342+70_342+73dup (PLP1) | ||
| ENST00000480325.1:n.340_343dup (PLP1) | ||
| ENST00000485931.5:n.269+70_269+73dup (PLP1) | ||
| ENST00000494475.5:c.191+70_191+73dup (PLP1) | ENSP00000480409.1:n.191+70_191+73dup | |
| ENST00000495678.5:n.493+70_493+73dup (PLP1) | ||
| ENST00000612423.4:c.191+70_191+73dup (PLP1) | ENSP00000481006.1:n.191+70_191+73dup | |
| ENST00000619236.1:c.191+70_191+73dup (PLP1) | ENSP00000477619.1:n.191+70_191+73dup | |
| ENST00000619257.4:n.421+70_421+73dup (PLP1) | ||
| ENST00000621218.4:c.191+70_191+73dup (PLP1) | ENSP00000484450.1:n.191+70_191+73dup | |
| NM_000533.4:c.191+70_191+73dup (PLP1) | NP_000524.3:n.191+70_191+73dup | |
| NM_001128834.2:c.191+70_191+73dup (PLP1) | NP_001122306.1:n.191+70_191+73dup | |
| NM_001305004.1:c.26+70_26+73dup (PLP1) | NP_001291933.1:n.26+70_26+73dup | |
| NM_199478.2:c.191+70_191+73dup (PLP1) | NP_955772.1:n.191+70_191+73dup | |
| XR_244483.3:n.862+6840_862+6843dup | ||
| NR_146558.1:n.457+6840_457+6843dup (RAB9B) | ||
| NR_146560.1:n.743+6840_743+6843dup (RAB9B) | ||
| NM_000533.5:c.191+70_191+73dup (PLP1) MANE Select | NP_000524.3:n.191+70_191+73dup | |
| NM_199478.3:c.191+70_191+73dup (PLP1) | NP_955772.1:n.191+70_191+73dup | |
| NM_001128834.3:c.191+70_191+73dup (PLP1) | NP_001122306.1:n.191+70_191+73dup | |
| NR_146558.2:n.432+6840_432+6843dup (RAB9B) | ||
| NR_146560.2:n.718+6840_718+6843dup (RAB9B) |