Linked Data
dbSNP Id:
rs200100909
gnomAD v3:
X-108580782-A-ATG
gnomAD v4:
X-108580782-A-ATG
MyVariant Identifiers:
chrX:g.107824012_107824013insTG (hg19)
chrX:g.108580782_108580783insTG (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108580795_108580796dup , CM000685.2:g.108580795_108580796dup | GRCh38 |
| NC_000023.10:g.107824025_107824026dup , CM000685.1:g.107824025_107824026dup | GRCh37 |
| NC_000023.9:g.107710681_107710682dup | NCBI36 |
| NG_011977.1:g.145872_145873dup | |
| NG_011977.2:g.145872_145873dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000328300.11:c.891+57_891+58dup MANE Select | ENSP00000331902.7:n.891+57_891+58dup | |
| ENST00000361603.7:c.891+57_891+58dup | ENSP00000354505.2:n.891+57_891+58dup | |
| ENST00000328300.10:c.891+57_891+58dup | ENSP00000331902.6:n.891+57_891+58dup | |
| ENST00000361603.6:c.891+57_891+58dup | ENSP00000354505.2:n.891+57_891+58dup | |
| NM_000495.4:c.891+57_891+58dup | NP_000486.1:n.891+57_891+58dup | |
| NM_033380.2:c.891+57_891+58dup | NP_203699.1:n.891+57_891+58dup | |
| XM_005262070.2:c.891+57_891+58dup | XP_005262127.1:n.891+57_891+58dup | |
| XM_005262072.3:c.891+57_891+58dup | XP_005262129.1:n.891+57_891+58dup | |
| XM_006724616.2:c.891+57_891+58dup | XP_006724679.1:n.891+57_891+58dup | |
| XM_011530849.1:c.567+57_567+58dup | XP_011529151.1:n.567+57_567+58dup | |
| XM_011530850.1:c.891+57_891+58dup | XP_011529152.1:n.891+57_891+58dup | |
| XM_011530849.2:c.906+57_906+58dup | XP_011529151.2:n.906+57_906+58dup | |
| XM_017029259.2:c.906+57_906+58dup | XP_016884748.1:n.906+57_906+58dup | |
| XM_017029260.1:c.906+57_906+58dup | XP_016884749.1:n.906+57_906+58dup | |
| XM_017029261.1:c.906+57_906+58dup | XP_016884750.1:n.906+57_906+58dup | |
| XM_017029262.2:c.906+57_906+58dup | XP_016884751.1:n.906+57_906+58dup | |
| NM_000495.5:c.891+57_891+58dup | NP_000486.1:n.891+57_891+58dup | |
| NM_033380.3:c.891+57_891+58dup MANE Select | NP_203699.1:n.891+57_891+58dup |