Linked Data
dbSNP Id:
rs1569242049
gnomAD v2:
X-70519785-C-CT
gnomAD v4:
X-71299935-C-CT
MyVariant Identifiers:
chrX:g.70519785_70519786insT (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71299938dup , CM000685.2:g.71299938dup | GRCh38 |
| NC_000023.10:g.70519788dup , CM000685.1:g.70519788dup | GRCh37 |
| NC_000023.9:g.70436513dup | NCBI36 |
| NG_046742.1:g.21747dup | |
| NG_054891.1:g.3664dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000276079.13:c.1282-4dup MANE Select | ENSP00000276079.8:n.1282-4dup | |
| ENST00000373856.8:c.1380-4dup | ENSP00000362963.4:n.1380-4dup | |
| ENST00000420903.6:c.1282-4dup | ENSP00000410299.2:n.1282-4dup | |
| ENST00000450092.6:c.1282-4dup | ENSP00000415777.2:n.1282-4dup | |
| ENST00000454976.2:c.1282-4dup | ENSP00000406673.2:n.1282-4dup | |
| ENST00000473525.2:n.1990-4dup | ||
| ENST00000676495.1:n.2693-4dup | ||
| ENST00000676499.1:n.2238-4dup | ||
| ENST00000676797.1:c.1015-4dup | ENSP00000503920.1:n.1015-4dup | |
| ENST00000677014.1:c.*1109-4dup | ENSP00000503813.1:n.*1109-4dup | |
| ENST00000677218.1:n.2453-4dup | ||
| ENST00000677245.1:c.*1491-4dup | ENSP00000503929.1:n.*1491-4dup | |
| ENST00000677274.1:c.1282-4dup | ENSP00000504314.1:n.1282-4dup | |
| ENST00000677446.1:c.1282-4dup | ENSP00000503031.1:n.1282-4dup | |
| ENST00000677612.1:c.1282-4dup | ENSP00000504351.1:n.1282-4dup | |
| ENST00000677766.1:n.3683dup | ||
| ENST00000677826.1:n.2024-4dup | ||
| ENST00000677879.1:c.1102-4dup | ENSP00000504090.1:n.1102-4dup | |
| ENST00000677977.1:n.3114-4dup | ||
| ENST00000678231.1:c.1282-4dup | ENSP00000503233.1:n.1282-4dup | |
| ENST00000678323.1:n.2380-4dup | ||
| ENST00000678335.1:c.*195-4dup | ENSP00000503769.1:n.*195-4dup | |
| ENST00000678437.1:c.1273-4dup | ENSP00000504007.1:n.1273-4dup | |
| ENST00000678660.1:c.1297-4dup | ENSP00000504665.1:n.1297-4dup | |
| ENST00000678830.1:c.1372-4dup | ENSP00000504263.1:n.1372-4dup | |
| ENST00000679029.1:c.*96-4dup | ENSP00000504193.1:n.*96-4dup | |
| ENST00000679267.1:n.3485dup | ||
| ENST00000276079.12:c.1282-4dup | ENSP00000276079.8:n.1282-4dup | |
| ENST00000373841.5:c.1282-4dup | ENSP00000362947.1:n.1282-4dup | |
| ENST00000373856.7:c.1282-4dup | ENSP00000362963.3:n.1282-4dup | |
| ENST00000472185.1:n.61-581dup | ||
| ENST00000473525.1:n.1056-4dup | ||
| ENST00000474431.5:n.317-4dup | ||
| ENST00000490044.5:n.1989-4dup | ||
| ENST00000535149.5:c.1015-4dup | ENSP00000441364.1:n.1015-4dup | |
| NM_001145408.1:c.1282-4dup | NP_001138880.1:n.1282-4dup | |
| NM_001145409.1:c.1282-4dup | NP_001138881.1:n.1282-4dup | |
| NM_001145410.1:c.1015-4dup | NP_001138882.1:n.1015-4dup | |
| NM_007363.4:c.1282-4dup | NP_031389.3:n.1282-4dup | |
| NM_007363.5:c.1282-4dup MANE Select | NP_031389.3:n.1282-4dup | |
| NM_001145408.2:c.1282-4dup | NP_001138880.1:n.1282-4dup | |
| NM_001145409.2:c.1282-4dup | NP_001138881.1:n.1282-4dup | |
| NM_001145410.2:c.1015-4dup | NP_001138882.1:n.1015-4dup |