Linked Data
dbSNP Id:
rs1212746673
gnomAD v3:
X-133952975-C-CTT
gnomAD v4:
X-133952975-C-CTT
MyVariant Identifiers:
chrX:g.133087002_133087003insTT (hg19)
chrX:g.133952975_133952976insTT (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.133952976_133952977dup , CM000685.2:g.133952976_133952977dup | GRCh38 |
| NC_000023.10:g.133087003_133087004dup , CM000685.1:g.133087003_133087004dup | GRCh37 |
| NC_000023.9:g.132914669_132914670dup | NCBI36 |
| NG_009286.1:g.37663_37664dup , LRG_505:g.37663_37664dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684880.1:c.337+73_337+74dup | ENSP00000510280.1:n.337+73_337+74dup | |
| ENST00000689310.1:c.289+121_289+122dup | ENSP00000510438.1:n.289+121_289+122dup | |
| ENST00000692630.1:n.467+73_467+74dup | ||
| ENST00000370818.8:c.337+73_337+74dup MANE Select | ENSP00000359854.3:n.337+73_337+74dup | |
| ENST00000394299.7:c.337+73_337+74dup | ENSP00000377836.2:n.337+73_337+74dup | |
| ENST00000370818.7:c.337+73_337+74dup | ENSP00000359854.3:n.337+73_337+74dup | |
| ENST00000394299.6:c.337+73_337+74dup | ENSP00000377836.2:n.337+73_337+74dup | |
| ENST00000631057.2:c.175+32298_175+32299dup | ENSP00000486325.1:n.175+32298_175+32299dup | |
| NM_001164617.1:c.337+73_337+74dup | NP_001158089.1:n.337+73_337+74dup | |
| NM_001164618.1:c.289+121_289+122dup | NP_001158090.1:n.289+121_289+122dup | |
| NM_001164619.1:c.175+32298_175+32299dup | NP_001158091.1:n.175+32298_175+32299dup | |
| NM_004484.3:c.337+73_337+74dup , LRG_505t1:c.337+73_337+74dup | NP_004475.1:n.337+73_337+74dup | |
| XM_017029413.2:c.337+73_337+74dup | XP_016884902.1:n.337+73_337+74dup | |
| NM_001164617.2:c.337+73_337+74dup | NP_001158089.1:n.337+73_337+74dup | |
| NM_001164618.2:c.289+121_289+122dup | NP_001158090.1:n.289+121_289+122dup | |
| NM_001164619.2:c.175+32298_175+32299dup | NP_001158091.1:n.175+32298_175+32299dup | |
| NM_004484.4:c.337+73_337+74dup MANE Select | NP_004475.1:n.337+73_337+74dup |