Linked Data
dbSNP Id:
rs782366420
gnomAD v2:
X-152959505-A-AG
gnomAD v4:
X-153694050-A-AG
MyVariant Identifiers:
chrX:g.152959506_152959507insG (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153694056dup , CM000685.2:g.153694056dup | GRCh38 |
| NC_000023.10:g.152959511dup , CM000685.1:g.152959511dup | GRCh37 |
| NC_000023.9:g.152612705dup | NCBI36 |
| NG_012016.1:g.10760dup | |
| NG_012016.2:g.10760dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1254+39dup MANE Select | ENSP00000253122.5:n.1254+39dup | |
| ENST00000253122.9:c.1254+39dup | ENSP00000253122.5:n.1254+39dup | |
| ENST00000413787.1:c.258-148dup | ENSP00000400463.1:n.258-148dup | |
| ENST00000430077.6:c.909+39dup | ENSP00000403041.2:n.909+39dup | |
| ENST00000442457.1:c.308+39dup | ||
| ENST00000457723.1:c.238+39dup | ENSP00000394742.1:n.238+39dup | |
| ENST00000485324.1:n.1326dup | ||
| NM_001142805.1:c.1224+39dup | NP_001136277.1:n.1224+39dup | |
| NM_001142806.1:c.909+39dup | NP_001136278.1:n.909+39dup | |
| NM_005629.3:c.1254+39dup | NP_005620.1:n.1254+39dup | |
| NM_005629.4:c.1254+39dup MANE Select | NP_005620.1:n.1254+39dup | |
| NM_001142805.2:c.1224+39dup | NP_001136277.1:n.1224+39dup |