Linked Data
ClinVar Variation Id:
10425
dbSNP Id:
rs137852312
MyVariant Identifiers:
chrX:g.48650753_48650754delinsTC (hg19)
chrX:g.48792346_48792347delinsTC (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48792346_48792347delinsTC , CM000685.2:g.48792346_48792347delinsTC | GRCh38 |
| NC_000023.10:g.48650753_48650754delinsTC , CM000685.1:g.48650753_48650754delinsTC | GRCh37 |
| NC_000023.9:g.48535697_48535698delinsTC | NCBI36 |
| NG_008846.2:g.10773_10774delinsTC , LRG_559:g.10773_10774delinsTC |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.373_374delinsTC | ENSP00000498550.1:p.Gly125Ser | |
| ENST00000696450.1:c.622_623delinsTC | ENSP00000512637.1:p.Gly208Ser | |
| ENST00000696451.1:c.373_374delinsTC | ENSP00000512638.1:p.Gly125Ser | |
| ENST00000696452.1:c.373_374delinsTC | ENSP00000512639.1:p.Gly125Ser | |
| ENST00000376670.9:c.622_623delinsTC MANE Select | ENSP00000365858.3:p.Gly208Ser | |
| ENST00000651144.1:c.373_374delinsTC | ENSP00000498550.1:p.Gly125Ser | |
| ENST00000376665.4:c.622_623delinsTC | ENSP00000365853.3:p.Gly208Ser | |
| ENST00000376670.7:c.622_623delinsTC | ENSP00000365858.3:p.Gly208Ser | |
| NM_002049.3:c.622_623delinsTC , LRG_559t1:c.622_623delinsTC | NP_002040.1:p.Gly208Ser | |
| XM_011543897.1:c.622_623delinsTC | XP_011542199.1:p.Gly208Ser | |
| XM_011543898.1:c.373_374delinsTC | XP_011542200.1:p.Gly125Ser | |
| XM_011543897.2:c.622_623delinsTC | XP_011542199.1:p.Gly208Ser | |
| XM_011543898.2:c.373_374delinsTC | XP_011542200.1:p.Gly125Ser | |
| XM_024452363.1:c.373_374delinsTC | XP_024308131.1:p.Gly125Ser | |
| NM_002049.4:c.622_623delinsTC MANE Select | NP_002040.1:p.Gly208Ser |