Linked Data
dbSNP Id:
rs1382673256
gnomAD v3:
X-47627756-T-TGGGCCCACCATCCC
gnomAD v4:
X-47627756-T-TGGGCCCACCATCCC
MyVariant Identifiers:
chrX:g.47487155_47487156insGGGCCCACCATCCC (hg19)
chrX:g.47627756_47627757insGGGCCCACCATCCC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47627757_47627770dup , CM000685.2:g.47627757_47627770dup | GRCh38 |
| NC_000023.10:g.47487156_47487169dup , CM000685.1:g.47487156_47487169dup | GRCh37 |
| NC_000023.9:g.47372100_47372113dup | NCBI36 |
| NG_009893.1:g.7536_7549dup , LRG_129:g.7536_7549dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396992.8:c.404-129_404-116dup MANE Select | ENSP00000380189.3:n.404-129_404-116dup | |
| ENST00000640573.1:n.642-129_642-116dup | ||
| ENST00000247153.7:c.404-129_404-116dup | ENSP00000247153.3:n.404-129_404-116dup | |
| ENST00000377005.6:c.404-129_404-116dup | ENSP00000366204.2:n.404-129_404-116dup | |
| ENST00000396992.7:c.404-129_404-116dup | ENSP00000380189.3:n.404-129_404-116dup | |
| ENST00000469388.1:c.-2-129_-2-116dup | ENSP00000418258.1:n.-2-129_-2-116dup | |
| ENST00000485991.5:n.1701-129_1701-116dup | ||
| NM_001145252.1:c.404-129_404-116dup | NP_001138724.1:n.404-129_404-116dup | |
| NM_002621.2:c.404-129_404-116dup , LRG_129t1:c.404-129_404-116dup | NP_002612.1:n.404-129_404-116dup | |
| XM_017029575.1:c.-2-129_-2-116dup | XP_016885064.1:n.-2-129_-2-116dup | |
| NM_001145252.3:c.404-129_404-116dup MANE Select | NP_001138724.1:n.404-129_404-116dup |